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Gene: Oxct1 MGI:1914291

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

3-oxoacid CoA transferase 1

Synonyms:

Scot-s, 2610008O03Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Oxct1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Oxct1 (1 diseases)
Human diseases predicted to be associated with Oxct1 (589 diseases)

The table below shows human diseases associated to Oxct1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency		Episodic ketoacidosis	OMIM:245050

The table below shows human diseases predicted to be associated to Oxct1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia, Increased circulating la...	OMIM:240600
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:615158
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia	ORPHA:293964
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Se...	OMIM:616111
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia	OMIM:610021
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:610090
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia	OMIM:240900
Dihydrolipoamide Dehydrogenase Deficiency	Lactic acidosis, Metabolic acidosis, Death in childhood, Hypoglycemia, Ketoacidosis	OMIM:246900
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Riboflavin Deficiency	Hypoglycemia, Lactic acidosis, Metabolic acidosis	OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased circulating lactate concentration	OMIM:618245
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Ketoacidosis	OMIM:612227
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased circulating lactate concentration	OMIM:249500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Combined Oxidative Phosphorylation Deficiency 16	Death in infancy, Increased circulating lactate concentration	OMIM:615395
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:614741
Combined Malonic And Methylmalonic Acidemia	Methylmalonic acidemia, Acidosis, Dicarboxylic acidemia, Hypoglycemia, Ketoacidosis	ORPHA:289504
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Pyruvate Carboxylase Deficiency	Hypoglycemia, Lactic acidosis, Proximal renal tubular acidosis, Increased circulating lactate con...	OMIM:266150
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Lactic acidosis, Hypercholesterolemia	OMIM:306000
Combined Oxidative Phosphorylation Deficiency 44	Increased circulating lactate concentration	OMIM:618855
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Lactic acidosis, Elevated lactate:pyruvate ratio, Episodic ketoacidosis, Metabolic ketoacidosis, ...	OMIM:615453
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:620137
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased circulating lactate concentration	OMIM:619062
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Ketoacidosis	OMIM:616095
Combined Oxidative Phosphorylation Deficiency 8	Lactic acidosis, Metabolic acidosis, Death in childhood, Death in infancy, Increased circulating ...	OMIM:614096
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated serum anion gap, Hypoglycemia, Lactic acidosis, Ketoacidosis	OMIM:618120
Combined Oxidative Phosphorylation Deficiency 40	Lactic acidosis, Death in infancy, Decreased circulating cortisol level, Neonatal death, Hypoglyc...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Lactic acidosis, Death in infancy, Decreased circulating cortisol level, Neonatal death, Hypoglyc...	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:619386
Hsd10 Mitochondrial Disease	Hypoglycemia, Lactic acidosis, Metabolic acidosis	OMIM:300438
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Lactic acidosis, Fasting hypoglycemia, Increased circulating lactate concen...	OMIM:613027
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Lactic acidosis	ORPHA:67048
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp...	OMIM:262190
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Metabolic acidosis	OMIM:301021
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia	OMIM:620211
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypoglycemia, Postprandial hyperlactemia, Hyperlipidemia, Intermittent lactic acidemia	ORPHA:369
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased circulating lactate concentration	OMIM:616209
Cardiomyopathy, Dilated, 2C	Death in infancy, Death in childhood, Increased circulating lactate concentration	OMIM:618189
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia	ORPHA:171706
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:615160
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Lactic acidosis, Elevated lactate:pyruvate ratio, Death in childhood, Death in infancy, Neonatal ...	OMIM:245400
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Lactic acidosis, Metabolic acidosis, Death in infancy, Increased circulati...	OMIM:619046
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618958
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Lactic acidosis, Decreased circulating cortisol level	OMIM:618838
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, ...	ORPHA:276608
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Metabolic acidosis	ORPHA:26792
2P21 Microdeletion Syndrome	Hypoglycemia, Lactic acidosis	ORPHA:163693
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Hypoketotic hypoglycemia, Fasting hyp...	ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Increased circulating lactate concentration	OMIM:617950
Spasticity, Childhood-Onset, With Hyperglycinemia	Increased circulating lactate concentration	OMIM:616859
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Lactic acidosis	OMIM:618241
Oxoglutarate Dehydrogenase Deficiency	Congenital lactic acidosis, Death in childhood, Metabolic acidosis, Increased circulating lactate...	OMIM:203740
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased circulating lactate concentration	OMIM:619196
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia, Lactic acidosis, Metabolic acidosis	OMIM:248360
Acetyl-Coa Carboxylase-Alpha Deficiency	Increased circulating lactate concentration	OMIM:613933
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Lactic acidosis, Metabolic acidosis, Death in childhood, Death in adolesce...	OMIM:619055
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia	ORPHA:364
Pyridoxine-Dependent Epilepsy	Hypoglycemia, Lactic acidosis	ORPHA:3006
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618237
Mitochondrial Trifunctional Protein Deficiency 2	Metabolic acidosis, Death in infancy, Increased circulating lactate concentration, Neonatal death...	OMIM:620300
Glycogen Storage Disease Iii	Hypoglycemia, Hyperlipidemia	OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Neonatal death	OMIM:619003
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Ketoacidosis	OMIM:618856
Glucocorticoid Resistance, Generalized	Hypoglycemia, Metabolic alkalosis, Increased circulating cortisol level	OMIM:615962
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:614739
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	ORPHA:2394
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypogly...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperins...	ORPHA:276575
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration	ORPHA:79096
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Metabolic acidosis, Recurrent hypoglycemia	ORPHA:94086
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Lactic acidosis, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Hypoglycemia, Renal tubular acidosis	ORPHA:156
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 30	Death in infancy, Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate...	OMIM:616974
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618253
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia, Ketoacidosis	OMIM:222100
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased circulating lactate concentration	OMIM:614055
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Lactic acidosis, Death in childhood, Death in infancy	OMIM:611126
Hsd10 Disease, Neonatal Type	Lactic acidosis, Metabolic acidosis	ORPHA:391457
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia	ORPHA:2089
Mitochondrial Complex I Deficiency, Nuclear Type 3	Death in childhood, Metabolic acidosis	OMIM:618224
Propionic Acidemia	Hypoglycemia	ORPHA:35
Diarrhea 13	Recurrent hypoglycemia	OMIM:620357
Combined Oxidative Phosphorylation Deficiency 45	Increased circulating lactate concentration	OMIM:618951
Combined Oxidative Phosphorylation Deficiency 9	Death in childhood, Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated serum anion gap...	OMIM:614582
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Acidosis, Death in infancy	OMIM:618235
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased circulating lactate concentration	ORPHA:457050
Glucose/Galactose Malabsorption	Glycosuria, Metabolic acidosis, Abnormal oral glucose tolerance	OMIM:606824
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis, Increased circulating lactate concentration	ORPHA:79246
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased circulating lactate concentration	OMIM:618244
Combined Oxidative Phosphorylation Deficiency 2	Lactic acidosis, Neonatal death, Increased circulating lactate concentration	OMIM:610498
Combined Oxidative Phosphorylation Deficiency 43	Increased circulating lactate concentration	OMIM:618851
Developmental And Epileptic Encephalopathy 53	Increased circulating lactate concentration	OMIM:617389
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased circulating lactate concentration	OMIM:617613
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Metaboli...	ORPHA:263455
Hsd10 Disease, Infantile Type	Hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	ORPHA:391428
Acute Peripheral Arterial Occlusion	Acidosis	ORPHA:90064
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis	ORPHA:2597
Glomerulopathy With Fibronectin Deposits 1	Acidosis	OMIM:137950
Mitochondrial Myopathy With Lactic Acidosis	Elevated serum anion gap, Lactic acidosis, Increased circulating lactate concentration	OMIM:251950
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Combined Oxidative Phosphorylation Deficiency 6	Increased circulating lactate concentration	OMIM:300816
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Lactic acidosis, Metabolic acidosis, Intermittent lactic acidemia, Fasting...	ORPHA:348
Glucocorticoid Deficiency 3	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:609197
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Increased circulating lactate concentration	OMIM:615918
Combined Oxidative Phosphorylation Deficiency 28	Severe lactic acidosis, Increased circulating lactate concentration	OMIM:616794
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hypoglycemia, Metabolic acidosis, Increased circulating free fatty acid level, Steatorrhea	OMIM:605911
Mitochondrial Complex I Deficiency, Nuclear Type 34	Lactic acidosis, Metabolic acidosis	OMIM:618776
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased circulating lactate concentration	OMIM:545000
Long-Olsen-Distelmaier Syndrome	Hypoglycemia, Death in childhood, Increased circulating lactate concentration	OMIM:620609
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:617710
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Elevated circulating 21-deoxycortisol concentration	OMIM:201910
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis	OMIM:204730
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Metabolic acidosis, Fasting hypoglycemia, Renal tubular acidosis, Impaired ...	ORPHA:2088
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoglycemia, Increased circulating lactate concentration	OMIM:620275
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased circulating lactate concentration	OMIM:609060
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Decreased serum bicarbonate concentration, Metabolic acidosis, Hyperchloremic acidosis, Bicarbona...	OMIM:604278
Multiple Acyl-Coa Dehydrogenase Deficiency	Glycosuria, Neonatal death, Acidosis, Hypoglycemia, Elevated circulating glutaric acid concentration	OMIM:231680
Coenzyme Q10 Deficiency, Primary, 4	Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration	OMIM:612016
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Respiratory alk...	OMIM:615751
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hypoglycemia, Diabetes mellitus, Metabolic acidosis	OMIM:616026
Beta-Ketothiolase Deficiency	Metabolic acidosis, Increased circulating lactate concentration, Hyperglycemia, Acidosis, Hypogly...	ORPHA:134
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia, Metabolic acidosis	OMIM:201450
Severe X-Linked Mitochondrial Encephalomyopathy	Increased circulating lactate concentration	ORPHA:238329
Laron Syndrome	Hypoglycemia, Hypercholesterolemia	ORPHA:633
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:606407
Mitochondrial Dna Depletion Syndrome 17	Death in childhood, Acidosis	OMIM:618567
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Increased circulating lactate concen...	OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 11	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased circulating lactate concentration	OMIM:617069
Combined Oxidative Phosphorylation Deficiency 48	Lactic acidosis, Increased circulating lactate concentration	OMIM:619012
Propionic Acidemia	Hypoglycemia, Lactic acidosis, Metabolic acidosis	OMIM:606054
Pyruvate Dehydrogenase E1-Alpha Deficiency	Chronic lactic acidosis, Lactic acidosis, Metabolic acidosis, Increased circulating lactate conce...	OMIM:312170
Insulinoma	Hyperinsulinemia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia,...	ORPHA:97279
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis	OMIM:231900
Maple Syrup Urine Disease, Type Ia	Hypoglycemia, Lactic acidosis	OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 4	Death in childhood, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618225
Mody	Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me...	ORPHA:552
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Lactic acidosis, Increased circulating lactate concentration	OMIM:617668
Combined Oxidative Phosphorylation Deficiency 23	Lactic acidosis, Increased circulating lactate concentration	OMIM:616198
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Methylmalonic acidemia, Metabolic ketoacidosis, Episodic metabolic acidosis	OMIM:251000
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Isolated Glycerol Kinase Deficiency	Metabolic acidosis	ORPHA:408
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia	OMIM:201400
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Recurrent hypoglycemia, Increased circulati...	ORPHA:79644
Mitochondrial Complex I Deficiency, Nuclear Type 14	Lactic acidosis, Increased circulating lactate concentration	OMIM:618236
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Metabolic acidosis	OMIM:229700
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia, Decreased circulating cortisol level	OMIM:600955
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level	ORPHA:199296
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia, Episodic metabolic acidosis	OMIM:210200
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Neonatal death, Increased circulating lactate concentration	OMIM:616342
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Glutaric Acidemia I	Hypoglycemia, Elevated circulating glutaric acid concentration, Metabolic acidosis	OMIM:231670
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia	ORPHA:79237
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased circulating lactate concentration	OMIM:617070
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased circulating lactate concentration	ORPHA:139485
Lipoyltransferase 1 Deficiency	Death in infancy, Lactic acidosis, Increased circulating lactate concentration	OMIM:616299
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Lactic acidosis, Hypoketotic hypoglycemia, Increase...	ORPHA:71212
Neurodegeneration With Brain Iron Accumulation 8	Increased circulating lactate concentration	OMIM:617917
Methanol Poisoning	Hyperlipidemia, Type I diabetes mellitus, Metabolic acidosis, Type II diabetes mellitus	ORPHA:31825
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration	OMIM:619737
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Death in childhood, Metabolic acidosis, Elevated serum anion gap, Increased circulating lactate c...	OMIM:246450
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased circulating lactate concentration	OMIM:618239
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Increased circulating lactate concentration	ORPHA:330050
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:610678
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Glucocorticoid Deficiency 2	Hypoglycemia, Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Increased circulating lactate concentration	OMIM:616277
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Increased circulating lactate concentration	OMIM:618378
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Lactic acidosis, Death in adolescence, Increased circulating lactate concentration	OMIM:619059
Non-Acquired Isolated Growth Hormone Deficiency	Neonatal hypoglycemia	ORPHA:631
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia	ORPHA:254516
Mitochondrial Complex I Deficiency, Nuclear Type 8	Lactic acidosis, Increased circulating lactate concentration	OMIM:618230
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Metabolic acidosis, Increased circulating lactate concentration	OMIM:617290
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Increased circulating lactate concentration	ORPHA:255182
Hypokalemic Tubulopathy And Deafness	Acidosis, Hyperaldosteronism	OMIM:619406
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased circulating lactate concentration	OMIM:301020
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia, Severe lactic acidosis, Death in infancy	OMIM:619355
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618247
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased circulating lactate concentration	ORPHA:663
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Lactic acidosis, Fasting hypoglycemia, Renal tubular acidosis, Ketotic hypo...	ORPHA:79240
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Decreased circulating cortisol level	OMIM:614736
Glycogen Storage Disease Ia	Xanthelasma, Lactic acidosis, Fasting hypoglycemia, Hyperlipidemia, Hypoglycemia	OMIM:232200
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Metabolic acidosis	OMIM:602199
Combined Oxidative Phosphorylation Deficiency 5	Death in infancy, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:611719
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Increased circulating lactate concentration	OMIM:617228
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased circulating lactate concentration	OMIM:615159
Congenital Disorder Of Glycosylation, Type Iibb	Increased circulating lactate concentration	OMIM:620546
Necrotizing Enterocolitis	Metabolic acidosis, Abnormal glucose homeostasis, Increased circulating lactate concentration, Hy...	ORPHA:391673
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Lactic acidosis, Fasting hypoglycemia, Renal tubular acidosis, Hypoglycemia...	ORPHA:264580
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:202200
Mitochondrial Myopathy, Infantile, Transient	Lactic acidosis, Increased circulating lactate concentration	OMIM:500009
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypoglycemia	ORPHA:35708
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoglycemia, Diabetes mellitus	ORPHA:391408
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Lactic acidosis, Death in childhood, Renal tubular acidosis, Death in infancy, Increa...	OMIM:614922
Striatonigral Degeneration, Infantile, Mitochondrial	Increased circulating lactate concentration	OMIM:500003
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Stress/infection-induced lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating ...	OMIM:252011
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in infancy, Death in childhood, Increased circulating lactate concentration	OMIM:619064
Cholera	Hypoglycemia, Miscarriage, Lactic acidosis, Acidosis	ORPHA:173
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Death in childhood, Metabolic acidosis, Increased circulating lactate concentra...	OMIM:616034
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Glycosuria, Hyperglycemia,...	ORPHA:2298
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:245349
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased circulating lacta...	OMIM:124000
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia, Metabolic acidosis, Ketoacidosis	OMIM:210210
Sengers Syndrome	Exercise-induced lactic acidemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:212350
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618226
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Hypoinsulinemia, Type II diabetes mellitus	ORPHA:453533
Perrault Syndrome 5	Increased circulating lactate concentration	OMIM:616138
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lactic acidosis, Increased circulating lactate concentration	OMIM:613561
Classic Galactosemia	Hypoglycemia	ORPHA:79239
D-Glyceric Aciduria	Hypoglycemia, Metabolic acidosis	OMIM:220120
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	ORPHA:70472
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Hypoketotic hypoglycemia, Renal tubular acidosis	OMIM:255120
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:616878
Multiple Mitochondrial Dysfunctions Syndrome 3	Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidosis	OMIM:615330
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemic seizures, Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	ORPHA:480864
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lactic acidosis, Increased circulating lactate concentration	OMIM:614458
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Proximal renal ...	OMIM:615824
Combined Oxidative Phosphorylation Defect Type 27	Increased circulating lactate concentration	ORPHA:477774
Pontocerebellar Hypoplasia, Type 6	Death in childhood, Increased circulating lactate concentration	OMIM:611523
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased circulating lactate concentration	OMIM:618416
Sulfite Oxidase Deficiency, Isolated	Metabolic acidosis, Death in infancy	OMIM:272300
Multiple Mitochondrial Dysfunctions Syndrome 1	Lactic acidosis, Death in infancy, Increased circulating lactate concentration, Neonatal death, E...	OMIM:605711
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia	OMIM:617575
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased circulating lactate concentration	OMIM:619063
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Death in childhood, Metabolic acidosis	OMIM:214150
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:618329
Coenzyme Q10 Deficiency, Primary, 3	Increased circulating lactate concentration	OMIM:614652
Methylmalonic Aciduria, Cblb Type	Hypoglycemia, Methylmalonic acidemia, Metabolic acidosis	OMIM:251110
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Lactic acidosis, Metabolic acidosis	ORPHA:26791
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Death in infancy	OMIM:617049
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia, Increased circulating lactate concentration	OMIM:620646
Carnitine Deficiency, Systemic Primary	Recurrent hypoglycemia, Impaired gluconeogenesis	OMIM:212140
Coenzyme Q10 Deficiency, Primary, 7	Increased circulating lactate concentration	OMIM:616276
Hawkinsinuria	Metabolic acidosis	ORPHA:2118
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased circulating lactate concentration	OMIM:619054
Pituitary Stalk Interruption Syndrome	Hypoglycemia, Death in infancy	ORPHA:95496
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased circulating lactate concentration	OMIM:617954
Immunodeficiency 44	Increased circulating lactate concentration	OMIM:616636
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	ORPHA:99901
Coenzyme Q10 Deficiency, Primary, 2	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration	OMIM:614651
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia	OMIM:600649
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Decreased serum bicarbonate concentration, Death in infancy	OMIM:608836
Combined Oxidative Phosphorylation Deficiency 13	Increased circulating lactate concentration	OMIM:614932
Aica-Ribosiduria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Leber Optic Atrophy And Dystonia	Increased circulating lactate concentration	OMIM:500001
Combined Oxidative Phosphorylation Deficiency 32	Death in infancy, Lactic acidosis, Increased circulating lactate concentration	OMIM:617664
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Metabolic acidosis	OMIM:611555
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Increased circulating lactate concentration	OMIM:614654
Solitary Fibrous Tumor	Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia	ORPHA:2126
Timothy Syndrome	Hypoglycemia	OMIM:601005
Glycerol Kinase Deficiency	Hypertriglyceridemia, Metabolic acidosis, Increased circulating lactate concentration, Hypoglycem...	OMIM:307030
Donohue Syndrome	Hyperinsulinemia, Hyperglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:246200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hypoglycemia	OMIM:212138
Charcot-Marie-Tooth Disease, Type 4K	Increased circulating lactate concentration	OMIM:616684
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:619051
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Glycosuria, Metabolic acidosis, Renal tubular acidosis	OMIM:613404
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Death in infancy	OMIM:610768
3-Methylglutaconic Aciduria Type 9	Increased circulating lactate concentration	ORPHA:505216
Glycogen Storage Disease Ic	Xanthelasma, Lactic acidosis, Metabolic acidosis, Hyperlipidemia, Hypoglycemia	OMIM:232240
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Lactic acidosis, Metabolic acidosis	OMIM:616501
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Pyruvate Carboxylase Deficiency	Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased circulating lacta...	ORPHA:3008
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Chronic acidosis, Glycosuria, Acidosis, Postprandial hyperglycemia	OMIM:227810
Spinocerebellar Ataxia With Epilepsy	Increased circulating lactate concentration	ORPHA:254881
Isolated Complex I Deficiency	Hypoglycemia, Lactic acidosis, Diabetes mellitus	ORPHA:2609
Combined Oxidative Phosphorylation Deficiency 18	Lactic acidosis, Increased circulating lactate concentration	OMIM:615578
Glycogen Storage Disease Ib	Xanthelasma, Hypoglycemia, Lactic acidosis, Hyperlipidemia	OMIM:232220
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Leigh Syndrome	Lactic acidosis, Renal tubular acidosis, Increased circulating lactate concentration, Hypoglycemi...	ORPHA:506
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Neonatal death, Increased circulating lactate concentration	OMIM:618810
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Death in infancy, Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate...	OMIM:604377
Mitochondrial Trifunctional Protein Deficiency 1	Lactic acidosis, Hypoketotic hypoglycemia	OMIM:609015
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Death in infancy, Lactic acidosis, Increased circulating lactate concentration	OMIM:614388
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Increased circulating lactate concentration	ORPHA:565624
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia, Elevated circulating glutaric acid concentration, Increased circulating la...	ORPHA:66634
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Fanconi Renotubular Syndrome 3	Glycosuria, Metabolic acidosis	OMIM:615605
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia, Increased circulating lactate concentration	OMIM:620451
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Death in infancy	OMIM:201475
Pyruvate Dehydrogenase E1-Alpha Deficiency	Congenital lactic acidosis, Lactic acidosis, Increased circulating lactate concentration	ORPHA:79243
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Increased circulating lactate concentration	ORPHA:445038
Developmental And Epileptic Encephalopathy 82	Increased circulating lactate concentration	OMIM:618721
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hyperchloremic metabolic acidosis, Metabolic acidosis, Distal renal tubular acidosis	OMIM:611590
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
3-Methylglutaconic Aciduria, Type Ix	Increased circulating lactate concentration	OMIM:617698
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Increased circulating lactate concentration	OMIM:609286
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased circulating lactate concentration	OMIM:619224
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration	OMIM:301025
Pancreatic And Cerebellar Agenesis	Hypoglycemia, Diabetes mellitus, Hyperglycemia, Death in infancy	OMIM:609069
Immunodeficiency 10	Hypoglycemia	OMIM:612783
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycemia, Metabolic acidosis, Hypoglycemia	OMIM:620423
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Metabolic acidosis, Hypoketotic hypoglycemia	ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lactic acidosis, Death in childhood, Increased circulating lactate concentration	OMIM:615838
Isovaleric Acidemia	Metabolic acidosis, Ketoacidosis	OMIM:243500
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased circulating lactate concentration	OMIM:619026
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism	OMIM:620126
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased circulating lactate concentration	OMIM:619170
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lactic acidosis, Elevated lactate:pyruvate ratio, Death in infancy, Severe lactic acidosis, Hypog...	OMIM:252010
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis	OMIM:250950
Harel-Yoon Syndrome	Increased circulating lactate concentration	OMIM:617183
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Lactic acidosis	OMIM:251880
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Mitochondrial Phosphate Carrier Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:610773
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypochloremic metabolic alkalosis, Diabetes mellitus, Increased circulating lactate concentration	OMIM:613845
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Lactic acidosis, Increased circulating lactate concentration	ORPHA:572798
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism	OMIM:620125
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Metabolic acidosis, Increased circulating lactate concentration	ORPHA:88639
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Metabolic acidosis, Distal renal tubular acidosis	OMIM:602722
Leigh Syndrome	Lactic acidosis, Increased circulating lactate concentration	OMIM:256000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Neonatal hypoglycemia, Hypoglycemia, Increased circulating lactate concentr...	OMIM:619418
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Death in childhood, Increased circulating lactate concentration	OMIM:618397
Pontocerebellar Hypoplasia, Type 9	Increased circulating lactate concentration	OMIM:615809
Adult Acute Respiratory Distress Syndrome	Diabetic ketoacidosis, Metabolic acidosis	ORPHA:70578
Pseudohypoaldosteronism, Type Iic	Decreased serum bicarbonate concentration, Metabolic acidosis, Hyperchloremic metabolic acidosis	OMIM:614492
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Fast...	ORPHA:769
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Metabolic acidosis, Increased circulating lactate concentration	OMIM:614105
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Lactic acidosis, Death in childhood, Increased circulating lactate concentration, Glycosuria, Ren...	OMIM:220110
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Glucose intolerance, Impaired glucose tolerance, Increased circulating lactate concentration	OMIM:610131
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia	OMIM:607143
Congenital Disorder Of Glycosylation, Type Iiaa	Hypoglycemia, Hypercholesterolemia	OMIM:620454
D-Glyceric Aciduria	Increased circulating free fatty acid level, Metabolic acidosis	ORPHA:941
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Death in childhood, Increased circulating lactate concentration	OMIM:604273
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Metabolic acidosis, Recurrent hypoglycemia, Increased circulating lactat...	ORPHA:20
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hypoglycemia, Lactic acidosis, Metabolic acidosis, Recurrent hypoglycemia	OMIM:256810
Leukodystrophy, Hypomyelinating, 4	Increased circulating lactate concentration	OMIM:612233
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Increased circulating lactate concentration	OMIM:619060
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Increased circulating lactate concentration	OMIM:616271
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia, Death in infancy	OMIM:608779
Generalized Glucocorticoid Resistance Syndrome	Hypoglycemia, Metabolic alkalosis, Increased circulating cortisol level	ORPHA:786
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Decreased circulating cortisol level, Hypoglycemia	ORPHA:199299
Congenital Short Bowel Syndrome	Steatorrhea, Metabolic acidosis	OMIM:615237
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased circulating lactate concentration	ORPHA:1349
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism	OMIM:264350
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Proximal renal tubular acidosis	OMIM:179830
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis	OMIM:145260
Combined Oxidative Phosphorylation Defect Type 13	Increased circulating lactate concentration	ORPHA:319514
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Increased circulating lactate concentration	OMIM:616479
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemic seizures, Xanthelasma, Lactic acidosis, Hyperlipidemia, Hypogl...	ORPHA:79259
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Lactic acidosis, Methylmalonic acidemia, Hypoglycemia, Increased circulating lactate concentration	ORPHA:17
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:617021
Liver Failure, Infantile, Transient	Death in infancy, Lactic acidosis, Increased circulating lactate concentration	OMIM:613070
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Fructose Intolerance, Hereditary	Lactic acidosis, Metabolic acidosis, Glycosuria, Proximal renal tubular acidosis, Hypoglycemia	OMIM:229600
Acute Adrenal Insufficiency	Hypoglycemia, Decreased circulating cortisol level, Hyperkalemic metabolic acidosis	ORPHA:95409
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Increased circulating lactate concentration, Renal tubular acidosis	ORPHA:324525
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Lactic acidosis, Death in childhood, Increased circulating lactate concentration	OMIM:614946
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperlipidemia, Metabolic acidosis, Hypoketotic hypoglycemia	ORPHA:228308
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Lactic acidosis, Methylmalonic acidemia, Increased circulating lactate concentration	OMIM:612073
Galactosemia I	Hyperchloremic metabolic acidosis, Metabolic acidosis	OMIM:230400
Familial Glucocorticoid Deficiency	Ketotic hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures	ORPHA:361
Acquired Methemoglobinemia	Acidosis	ORPHA:464453
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal hypoglycemia, Neonatal death, Increased circulating lactate concentration	OMIM:617248
Mirage Syndrome	Hypoglycemia	OMIM:617053
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Metabolic acidosis, Increased circulating lactate concentration	OMIM:619053
Pituitary Apoplexy	Hypoglycemia, Increased circulating cortisol level	ORPHA:95613
Pseudohypoaldosteronism, Type Iie	Hyperchloremic metabolic acidosis, Metabolic acidosis	OMIM:614496
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Metabolic acidosis, Hyperaldosteronism	OMIM:177735
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Severe lactic acidosis, Increased circulating lactate concentration	OMIM:615418
Glycogen Storage Disease Xi	Increased circulating lactate concentration	OMIM:612933
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Sotos Syndrome	Neonatal hypoglycemia, Glucose intolerance	OMIM:117550
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Mitochondrial Complex I Deficiency, Nuclear Type 29	Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration	OMIM:618250
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia, Decreased circulating cortisol level	ORPHA:90790
Fanconi Renotubular Syndrome 1	Glycosuria, Metabolic acidosis	OMIM:134600
Sudden Cardiac Failure, Infantile	Metabolic acidosis	OMIM:617222
Primary Fanconi Renotubular Syndrome	Bicarbonate-wasting renal tubular acidosis, Glycosuria, Proximal renal tubular acidosis, Hypoglyc...	ORPHA:3337
Hereditary Fructose Intolerance	Metabolic acidosis, Reactive hypoglycemia	ORPHA:469
Developmental And Epileptic Encephalopathy 51	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration	OMIM:617339
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia	OMIM:617093
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Methylmalonic acidemia, Metabolic acidosis	ORPHA:79282
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Metabolic acidosis, Increased circulating lactate concentration	OMIM:618528
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Lactic acidosis, Increased circulating lactate concentration	OMIM:600462
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis	ORPHA:79155
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Increased circulating lactate concentration	OMIM:616239
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Addison Disease	Type I diabetes mellitus, Decreased circulating cortisol level, Hyperkalemic metabolic acidosis, ...	ORPHA:85138
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia	OMIM:614921
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased circulating lactate concentration	ORPHA:2364
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Increased circulating lactate concentration	OMIM:614462
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Increased circulating cortisol level	OMIM:131100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Lactic acidosis, Death in infancy, Increased circulating lactate concentration, Hyperglycemia, Se...	OMIM:220111
Tyrosinemia, Type I	Hypoglycemia, Metabolic acidosis, Renal Fanconi syndrome	OMIM:276700
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Increased circulating lactate concentration	ORPHA:496790
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Death in childhood, Increased circulating lactate concentration	OMIM:617186
Infantile Nephropathic Cystinosis	Glycosuria, Renal Fanconi syndrome, Hyperchloremic metabolic acidosis, Acidosis	ORPHA:411629
Mitochondrial Complex I Deficiency, Nuclear Type 37	Lactic acidosis, Increased circulating lactate concentration	OMIM:619272
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glycosuria, Lactic acidosis, Glucose intolerance, Increased circulating lactate concentration	OMIM:616539
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Sheehan Syndrome	Hypoglycemia, Decreased circulating cortisol level	ORPHA:91355
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis	OMIM:251120
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Metabolic acidosis, Renal tubular acidosis	OMIM:208085
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Increased circulating lactate concentration	OMIM:616896
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Lactic acidosis, Neonatal death, Death in childhood, Increased circulating lactate concentration	OMIM:614052
Amish Lethal Microcephaly	Metabolic acidosis, Death in infancy	ORPHA:99742
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis, Metabolic acidosis	OMIM:615595
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia, Death in infancy	OMIM:617156
Combined Oxidative Phosphorylation Deficiency 3	Lactic acidosis, Elevated lactate:pyruvate ratio, Death in childhood, Death in infancy, Increased...	OMIM:610505
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Hypoketotic hypoglycemia	ORPHA:157
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased circulating lactate concentration	ORPHA:137898
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Lactic acidosis, Metabolic acidosis, Death in childhood, Type I diabetes mellitus, R...	OMIM:557000
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased circulating lactate concentration	OMIM:612949
Hyperaldosteronism, Familial, Type Iii	Metabolic acidosis, Hyperaldosteronism	OMIM:613677
Optic Atrophy 11	Increased circulating lactate concentration	OMIM:617302
Mitochondrial Dna Depletion Syndrome 19	Increased circulating lactate concentration	OMIM:618972
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Death in childhood, Increased circulating lactate concentration	OMIM:619847
Histiocytoid Cardiomyopathy	Hypoglycemia, Lactic acidosis	ORPHA:137675
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia, Decreased circulating cortisol level	ORPHA:90791
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased circulating lactate concentration	ORPHA:438114
Generalized Pseudohypoaldosteronism Type 1	Metabolic acidosis, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:171876
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Adenine Phosphoribosyltransferase Deficiency	Metabolic acidosis	OMIM:614723
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Congenital Syphilis	Hypoglycemia	ORPHA:499009
Alg12-Cdg	Hypocholesterolemia, Recurrent hypoglycemia	ORPHA:79324
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Metabolic acidosis	OMIM:620152
Combined Oxidative Phosphorylation Deficiency 7	Increased circulating lactate concentration	OMIM:613559
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Death in childhood, Increased circulating lactate concentration	OMIM:619147
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Shigellosis	Hypoglycemia	ORPHA:810
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased circulating lactate concentration	OMIM:619405
Holoprosencephaly	Hypoglycemia, Diabetes mellitus	ORPHA:2162
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Neonatal hypoglycemia, Decreased circulating cortisol level, Acidosis	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Neonatal hypoglycemia, Decreased circulating cortisol level, Acidosis	ORPHA:289548
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Increased circulating lactate concentration, Lactic acidosis, Renal tubular acidosis	OMIM:615471
Combined Oxidative Phosphorylation Deficiency 33	Lactic acidosis, Increased circulating lactate concentration	OMIM:617713
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Renal Hypoplasia, Bilateral	Glycosuria, Metabolic acidosis	ORPHA:97362
Deeah Syndrome	Neonatal hypoglycemia, Death in childhood, Death in adolescence, Death in infancy	OMIM:619004
Myopathy With Lactic Acidosis, Hereditary	Lactic acidosis, Increased circulating lactate concentration	OMIM:255125
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Leprechaunism	Hyperinsulinemia, Fasting hypoglycemia, Hyperaldosteronism, Insulin resistance, Postprandial hype...	ORPHA:508
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased circulating lactate concentration	OMIM:618598
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Mitochondrial Complex I Deficiency, Nuclear Type 32	Death in childhood, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618252
Melas	Lactic acidosis, Increased circulating lactate concentration, Type II diabetes mellitus, Type I d...	ORPHA:550
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Increased circulating lactate concentration	OMIM:620089
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased circulating lactate concentration	ORPHA:521411
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Recurrent hypoglycemia	ORPHA:293978
Combined Oxidative Phosphorylation Deficiency 27	Increased circulating lactate concentration	OMIM:616672
Dihydropyrimidinase Deficiency	Metabolic acidosis	OMIM:222748
Acute Liver Failure	Hypoglycemia, Alkalosis, Acidosis	ORPHA:90062
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Lactic acidosis, Increased circulating lactate concentration	OMIM:251900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Death in childhood, Increased circulating lactate concentration	OMIM:618321
Holocarboxylase Synthetase Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:253270
Methylmalonic Aciduria, Cbla Type	Elevated serum anion gap, Methylmalonic acidemia, Metabolic acidosis	OMIM:251100
Perlman Syndrome	Hypoglycemia	OMIM:267000
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Acidosis, Hypercholesterolemia	ORPHA:275761
Marburg Hemorrhagic Fever	Hypoglycemia, Lactic acidosis, Abnormality of acid-base homeostasis	ORPHA:99826
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Metabolic acidosis, Death in infancy	OMIM:618183
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Menkes Disease	Hypoglycemia	ORPHA:565
Simpson-Golabi-Behmel Syndrome	Hypoglycemia, Death in infancy	ORPHA:373
Pearson Syndrome	Steatorrhea, Lactic acidosis, Decreased serum bicarbonate concentration, Elevated lactate:pyruvat...	ORPHA:699
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Glucose intolerance, Increased circulating lactate concentration	ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 12	Lactic acidosis, Increased circulating lactate concentration	OMIM:614924
Combined Oxidative Phosphorylation Deficiency 55	Renal Fanconi syndrome, Increased circulating lactate concentration	OMIM:619743
Colchicine Poisoning	Lactic acidosis, Metabolic acidosis, Abnormality of acid-base homeostasis	ORPHA:31824
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Episodic ketoacidosis	OMIM:245050
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Neonatal hypoglycemia, Miscarriage, Decreased circulating cortisol level, Hyperkalemic metabolic ...	ORPHA:90794
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoglycemia	OMIM:613658
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia	ORPHA:226307
Familial Hypoaldosteronism	Metabolic acidosis, Proximal renal tubular acidosis	ORPHA:427
Microvillus Inclusion Disease	Metabolic acidosis	ORPHA:2290
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased circulating lactate concentration	ORPHA:70595
Combined Oxidative Phosphorylation Deficiency 29	Increased circulating lactate concentration	OMIM:616811
Bacterial Toxic-Shock Syndrome	Metabolic acidosis, Increased circulating lactate concentration	ORPHA:36234
Ethylene Glycol Poisoning	Elevated serum anion gap, Lactic acidosis, Metabolic acidosis	ORPHA:31826
Neurooculorenal Syndrome	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:620305
Vici Syndrome	Acidosis	OMIM:242840
Hawkinsinuria	Metabolic acidosis	OMIM:140350
Beta-Ureidopropionase Deficiency	Metabolic acidosis, Increased circulating lactate concentration	OMIM:613161
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased circulating lactate concentration	OMIM:618249
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Combined Oxidative Phosphorylation Defect Type 29	Increased circulating lactate concentration	ORPHA:478029
Fumarase Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:606812
Neurodegeneration And Seizures Due To Copper Transport Defect	Increased circulating lactate concentration	OMIM:620306
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Lactic acidosis, Increased circulating lactate concentration	OMIM:620358
Proximal Spinal Muscular Atrophy	Metabolic acidosis	ORPHA:70
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased circulating lactate concentration	OMIM:157640
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hypoglycemia	ORPHA:116
Costello Syndrome	Hypoglycemia	OMIM:218040
Sepsis In Premature Infants	Metabolic acidosis	ORPHA:90051
Rett Syndrome	Increased circulating lactate concentration	ORPHA:778
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Metabolic acidosis	OMIM:615895
Juvenile Nephropathic Cystinosis	Glycosuria, Metabolic acidosis, Renal Fanconi syndrome	ORPHA:411634
Cystinosis, Nephropathic	Metabolic acidosis, Glycosuria, Episodic metabolic acidosis, Diabetes mellitus, Renal Fanconi syn...	OMIM:219800
Lujo Hemorrhagic Fever	Metabolic acidosis	ORPHA:319213
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased circulating lactate concentration	OMIM:274150
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Metabolic acidosis	OMIM:277400
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Metabolic acidosis, Renal tubular acidosis	OMIM:619575
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased circulating lactate concentration	OMIM:607459
Cardiogenic Shock	Metabolic acidosis, Increased circulating lactate concentration	ORPHA:97292
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Increased circulating lactate concentration, Hyperaldosteronism, Proximal renal...	ORPHA:534
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia, Decreased circulating cortisol level, Elevated serum 11-deoxycortisol	OMIM:201750
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased circulating lactate concentration	OMIM:618222
Osteopetrosis With Renal Tubular Acidosis	Metabolic acidosis, Distal renal tubular acidosis, Proximal renal tubular acidosis, Renal tubular...	ORPHA:2785
Combined Oxidative Phosphorylation Deficiency 15	Increased circulating lactate concentration	OMIM:614947
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Neuroleptic Malignant Syndrome	Metabolic acidosis	ORPHA:94093
Malignant Hyperthermia Of Anesthesia	Metabolic acidosis	ORPHA:423
Congenital Disorder Of Deglycosylation 1	Increased circulating lactate concentration	OMIM:615273
Primary Hyperoxaluria Type 1	Metabolic acidosis	ORPHA:93598
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Metabolic acidosis	OMIM:619573
Mitochondrial Dna-Associated Leigh Syndrome	Increased circulating lactate concentration	ORPHA:255210
Hypomagnesemia 3, Renal	Acidosis, Distal renal tubular acidosis	OMIM:248250
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Cerebrotendinous Xanthomatosis	Increased circulating lactate concentration	ORPHA:909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Increased circulating lactate concentration	OMIM:203700
Hyperoxaluria, Primary, Type I	Metabolic acidosis	OMIM:259900
Lysinuric Protein Intolerance	Increased circulating lactate concentration	OMIM:222700
Primary Hyperoxaluria	Metabolic acidosis	ORPHA:416
Liver Disease, Severe Congenital	Hyperinsulinemic hypoglycemia, Metabolic acidosis	OMIM:619991
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypercholesterolemia, Neonatal death, Metabolic acidosis, Increased circulating lactate concentra...	OMIM:619534
Sotos Syndrome	Neonatal hypoglycemia	ORPHA:821
Yellow Fever	Decreased serum bicarbonate concentration, Metabolic acidosis	ORPHA:99829

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Oxct1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Oxct1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ketolysis is required for the proper development and function of the somatosensory nervous system.	Experimental neurology (April 2023)	Oxct1^{tm1c(KOMP)Wtsi}	37100111
Fasting induces a highly resilient deep quiescent state in muscle stem cells via ketone body signaling.	Cell metabolism (May 2022)	Oxct1^{tm1c(KOMP)Wtsi}	PMC9177797
Pimozide Alleviates Hyperglycemia in Diet-Induced Obesity by Inhibiting Skeletal Muscle Ketone Oxidation.	Cell metabolism (April 2020)	Oxct1^{tm1c(KOMP)Wtsi}	32275862
Hepatocyte-Macrophage Acetoacetate Shuttle Protects against Tissue Fibrosis.	Cell metabolism (November 2018)	Oxct1^{tm1c(KOMP)Wtsi}	30449686
Cardiomyocyte-specific deficiency of ketone body metabolism promotes accelerated pathological remodeling.	Molecular metabolism (August 2014)	Oxct1^{tm1a(KOMP)Wtsi}	PMC4209361
Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.	American journal of physiology. Endocrinology and metabolism (December 2012)	Oxct1^{tm1a(KOMP)Wtsi}	PMC3566508
Obligate role for ketone body oxidation in neonatal metabolic homeostasis.	The Journal of biological chemistry (January 2011)	Oxct1^{tm1a(KOMP)Wtsi}	PMC3044945

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Oxct1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Oxct1^{tm43054(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Oxct1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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