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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 (578 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	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Increased serum lactate	OMIM:240600
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:615158
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Hypoglycemia, Increased serum lactate, Lactic acidosis, Severe l...	OMIM:616111
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, 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
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:610090
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia, Ketoacidosis, Lactic acidosis, Metabolic acidosis, Death in childhood	OMIM:246900
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Riboflavin Deficiency	Metabolic acidosis, Lactic acidosis, Hypoglycemia	OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Diabetes Mellitus, Ketosis-Prone	Ketoacidosis, Insulin resistance, Diabetes mellitus	OMIM:612227
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Mitochondrial Pyruvate Carrier Deficiency	Lactic acidosis, Increased serum lactate, Hypoglycemia	OMIM:614741
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Combined Oxidative Phosphorylation Deficiency 16	Increased serum lactate, Death in infancy	OMIM:615395
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Ketoacidosis, Acidosis	ORPHA:289504
Glycogen Storage Disease Ixa1	Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia	OMIM:306000
Pyruvate Carboxylase Deficiency	Increased serum lactate, Lactic acidosis, Hypoglycemia, Proximal renal tubular acidosis	OMIM:266150
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:620137
Combined Oxidative Phosphorylation Deficiency 44	Increased serum lactate	OMIM:618855
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Hypoglycemia, Metabolic ketoacidosis, Increased serum lactate, K...	OMIM:615453
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Increased serum lactate, Lactic acidosis, Fasting hypoglycemia	OMIM:613027
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum lactate	OMIM:619062
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lactic acidosis, Elevated serum anion gap, Hypoglycemia, Ketoacidosis	OMIM:618120
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis, Ketotic hypoglycemia	OMIM:616095
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Death in childhoo...	OMIM:614096
Combined Oxidative Phosphorylation Deficiency 52	Increased serum lactate, Death in infancy, Hypoglycemia, Metabolic acidosis	OMIM:619386
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Lactic acidosis, Neonatal d...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Lactic acidosis, Neonatal d...	OMIM:618839
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Hypoglycemia	ORPHA:67048
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Increased serum lactate, Diabetes mellitus	ORPHA:320360
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:619048
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Postprandial hyperlactemia, Hypoglycemia, Intermittent lactic acidemia	ORPHA:369
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures	OMIM:620211
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Metabolic acidosis	OMIM:301021
Combined Oxidative Phosphorylation Deficiency 34	Increased serum lactate, Lactic acidosis, Hypoglycemia	OMIM:617872
Hsd10 Mitochondrial Disease	Lactic acidosis, Hypoglycemia, Metabolic acidosis	OMIM:300438
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased serum lactate	OMIM:616209
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia	ORPHA:171706
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:615160
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Death in infancy, Hypoglycemia, Lactic acidosis, Death in childh...	OMIM:245400
Cardiomyopathy, Dilated, 2C	Increased serum lactate, Death in infancy, Death in childhood	OMIM:618189
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Neonatal hypoglyc...	OMIM:619046
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:618958
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
2P21 Microdeletion Syndrome	Lactic acidosis, Hypoglycemia	ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Short Chain Acyl-Coa Dehydrogenase Deficiency	Metabolic acidosis, Ketotic hypoglycemia	ORPHA:26792
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp...	ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi...	ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 36	Increased serum lactate, Hypoglycemia	OMIM:617950
Combined Oxidative Phosphorylation Deficiency 10	Lactic acidosis, Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:614702
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypoglycemia	OMIM:618241
Malonyl-Coa Decarboxylase Deficiency	Lactic acidosis, Hypoglycemia, Metabolic acidosis	OMIM:248360
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis, Death in childhood	OMIM:203740
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased serum lactate	OMIM:619196
Tiglic Acidemia	Acidosis	OMIM:275190
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Hypoglycemia, Increased serum lactate, Death in adolescence, Lactic acidosis, M...	OMIM:619055
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:364
Pyridoxine-Dependent Epilepsy	Lactic acidosis, Hypoglycemia	ORPHA:3006
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Hypoglycemia, Increased serum lactate, Metabolic acidosis, Neonatal death	OMIM:620300
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia	OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Increased serum lactate, Metabolic acidosis	OMIM:618237
Pyridoxal Phosphate-Responsive Seizures	Increased serum lactate, Hypoglycemia, Metabolic acidosis	ORPHA:79096
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Ketoacidosis	OMIM:618856
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Increased circulating cortisol level, Hypoglycemia	OMIM:615962
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Lactic acidosis, Increased serum lactate, Hypoglycemia	OMIM:614739
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis	OMIM:619003
Pyruvate Dehydrogenase E3 Deficiency	Lactic acidosis, Increased serum lactate, Hypoglycemia	ORPHA:2394
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ...	ORPHA:276575
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Lactic acidosis, Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis, Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Blue Diaper Syndrome	Metabolic acidosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio	ORPHA:94086
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Type 1 Diabetes Mellitus	Ketoacidosis, Hyperglycemia, Diabetes mellitus	OMIM:222100
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate	OMIM:614055
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Death in infancy, Lactic acidosis, Increased serum lactate	OMIM:616974
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Lactic acidosis, Metabolic acidosis	ORPHA:91130
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Mitochondrial Complex I Deficiency, Nuclear Type 33	Lactic acidosis, Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:618253
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:607398
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis	ORPHA:391457
Mitochondrial Complex I Deficiency, Nuclear Type 20	Lactic acidosis, Death in infancy, Hypoglycemia, Death in childhood	OMIM:611126
Propionic Acidemia	Hypoglycemia	ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis, Death in childhood	OMIM:618224
Diarrhea 13	Recurrent hypoglycemia	OMIM:620357
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Death in infancy, Acidosis	OMIM:618235
Combined Oxidative Phosphorylation Deficiency 45	Increased serum lactate	OMIM:618951
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Eleva...	OMIM:614582
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lactic acidosis	ORPHA:79246
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Metabolic ketoacidosis, Hyperinsulinemia, Renal Fanconi syndrome, Fasting hypoglycemia, Glycosuri...	ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lactic acidosis, Increased serum lactate	OMIM:610498
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased serum lactate	OMIM:617613
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased serum lactate	OMIM:618244
Combined Oxidative Phosphorylation Deficiency 43	Increased serum lactate	OMIM:618851
Developmental And Epileptic Encephalopathy 53	Increased serum lactate	OMIM:617389
Glucose/Galactose Malabsorption	Metabolic acidosis, Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Hsd10 Disease, Infantile Type	Lactic acidosis, Increased serum lactate, Hypoglycemia, Metabolic acidosis	ORPHA:391428
Acute Peripheral Arterial Occlusion	Acidosis	ORPHA:90064
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,...	ORPHA:552
Mitochondrial Myopathy With Lactic Acidosis	Increased serum lactate, Lactic acidosis, Elevated serum anion gap	OMIM:251950
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis	ORPHA:2597
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Lactic acidosis, Metabolic acidosis, Fasting hypoglycemia, Intermittent lactic acid...	ORPHA:348
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Metabolic acidosis, Hypoglycemia, Death in childhood	OMIM:246450
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Combined Oxidative Phosphorylation Deficiency 28	Increased serum lactate, Severe lactic acidosis	OMIM:616794
Glomerulopathy With Fibronectin Deposits 1	Acidosis	OMIM:137950
Combined Oxidative Phosphorylation Deficiency 6	Increased serum lactate	OMIM:300816
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis, Hypoglycemia	OMIM:201450
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Increased serum lactate	OMIM:615918
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum lactate	OMIM:545000
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased serum lactate	ORPHA:457050
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis	OMIM:204730
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Metabolic acidosis, Renal tu...	ORPHA:2088
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Increased serum lactate, Hypoglycemia	OMIM:617710
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Increased serum lactate, Death in infancy, Hypoglycemia	OMIM:620275
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glycosuria, Neonatal death, Elevated circulating glutaric acid concentration, Acidosis	OMIM:231680
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Episodic metabolic acidosis, Hypoglycemia, Metabolic ketoacidosis	OMIM:251000
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:609060
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Metabolic acidosis, ...	OMIM:604278
Maple Syrup Urine Disease	Lactic acidosis, Hypoglycemia	OMIM:248600
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Metabolic acidosis, Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Hypoglycemia, Increased serum lactate, Ketoacidosis, Lactic acidosis, Meta...	OMIM:615751
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Hypotonia-Cystinuria Syndrome	Lactic acidosis, Increased serum lactate, Neonatal hypoglycemia	OMIM:606407
Beta-Ketothiolase Deficiency	Hypoglycemia, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Hyperglycemia, Acidosis	ORPHA:134
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum lactate	ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lactic acidosis, Increased serum lactate, Metabolic acidosis, Severe lactic acidosis	OMIM:618228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased serum lactate	OMIM:617069
Mitochondrial Complex I Deficiency, Nuclear Type 11	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:618234
Propionic Acidemia	Lactic acidosis, Hypoglycemia, Metabolic acidosis	OMIM:606054
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Metabolic acidosis, Severe lac...	OMIM:312170
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur...	ORPHA:97279
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Death in childhood	OMIM:618567
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum lactate, Metabolic acidosis, Death in childhood	OMIM:618225
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis	OMIM:231900
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Hypoglycemia	OMIM:229700
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lactic acidosis, Death in infancy, Increased serum lactate	OMIM:617668
Combined Oxidative Phosphorylation Deficiency 23	Lactic acidosis, Increased serum lactate	OMIM:616198
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia	OMIM:201400
Isolated Glycerol Kinase Deficiency	Metabolic acidosis	ORPHA:408
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Transient hyperlipidemia, Hypoketotic hypoglycemia	OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis	OMIM:618236
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Episodic metabolic acidosis, Hypoglycemia	OMIM:210200
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Necrotizing Enterocolitis	Increased serum lactate, Metabolic acidosis, Abnormal glucose homeostasis, Hyperglycemia, Acidosis	ORPHA:391673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased serum lactate	OMIM:617070
Galactokinase Deficiency	Hypercholesterolemia, Hyperinsulinemia, Hypoglycemia	ORPHA:79237
Glutaric Acidemia I	Metabolic acidosis, Elevated circulating glutaric acid concentration, Hypoglycemia	OMIM:231670
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Lissencephaly 7 With Cerebellar Hypoplasia	Neonatal death, Death in infancy, Increased serum lactate	OMIM:616342
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Lac...	ORPHA:71212
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Recurrent hypoglycemia, Increased circulating cortisol level, Neonatal hypoglycemia, Hyperinsulin...	ORPHA:79644
Neurodegeneration With Brain Iron Accumulation 8	Increased serum lactate	OMIM:617917
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Lipoyltransferase 1 Deficiency	Lactic acidosis, Death in infancy, Increased serum lactate	OMIM:616299
Hypokalemic Tubulopathy And Deafness	Acidosis, Hyperaldosteronism	OMIM:619406
Combined Oxidative Phosphorylation Deficiency 54	Elevated lactate:pyruvate ratio, Hyperglycemia, Increased serum lactate	OMIM:619737
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Increased serum lactate, Death in infancy	OMIM:616277
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Metabolic acidosis, Type II diabetes mellitus	ORPHA:31825
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Death in infancy, Lactic acidosis, Metabolic acidosis	OMIM:610678
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Increased serum lactate	ORPHA:330050
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Hypoglycemic seizures	ORPHA:199296
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Lactic acidosis, Increased serum lactate, Death in adolescence	OMIM:619059
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:255182
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis	OMIM:618230
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Ketotic hypoglycemia, Lactic acidosis, Renal tubular acidosis, Recurrent hy...	ORPHA:79240
Mitochondrial Myopathy, Infantile, Transient	Lactic acidosis, Increased serum lactate	OMIM:500009
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Lactic acidosis, Xanthelasma, Fasting hypoglycemia	OMIM:232200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia	OMIM:614736
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased serum lactate	OMIM:301020
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Lactic acidosis, Renal tubular acidosis, Fasting hypoglycemia...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Death in infancy, Hypoglycemia, Severe lactic acidosis	OMIM:619355
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Metabolic acidosis	OMIM:602199
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased serum lactate	OMIM:615159
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:618247
Combined Oxidative Phosphorylation Deficiency 5	Lactic acidosis, Death in infancy, Increased serum lactate, Metabolic acidosis	OMIM:611719
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:202200
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Increased serum lactate	OMIM:617228
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketoacidosis, Hypoglycemia, Metabolic acidosis	OMIM:210210
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
D-Glyceric Aciduria	Metabolic acidosis, Hypoglycemia	OMIM:220120
Cholera	Lactic acidosis, Acidosis, Miscarriage, Hypoglycemia	ORPHA:173
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactate	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Increased serum lactate	OMIM:618378
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Increased serum lactate, Lactic acidosis, Renal tubular acidosis, Stillbirth, D...	OMIM:614922
Striatonigral Degeneration, Infantile, Mitochondrial	Increased serum lactate	OMIM:500003
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Death in infancy, Metabolic acidosis, Death in childhood	OMIM:616034
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Increased serum lactate, Death in infancy, Death in childhood	OMIM:619064
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metaboli...	OMIM:124000
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:245349
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem...	ORPHA:2298
Perrault Syndrome 5	Increased serum lactate	OMIM:616138
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:618226
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Hypoglycemia	OMIM:617049
Classic Galactosemia	Hypoglycemia	ORPHA:79239
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lactic acidosis, Increased serum lactate	OMIM:613561
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Lactic acidosis, Increased serum lactate, Hypoglycemia, Metabolic acidosis	OMIM:616878
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Lactic acidosis, Increased serum lactate, Metabolic acidosis	ORPHA:70472
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis	OMIM:615330
Sengers Syndrome	Lactic acidosis, Exercise-induced lactic acidemia, Increased serum lactate	OMIM:212350
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lactic acidosis, Increased serum lactate	OMIM:614458
Hawkinsinuria	Metabolic acidosis	ORPHA:2118
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Lactic acidosis, Increased serum lactate, Hypoglycemia, Hypoglycemic seizures	ORPHA:480864
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co...	OMIM:615824
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia	OMIM:617575
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Sulfite Oxidase Deficiency, Isolated	Metabolic acidosis, Death in infancy	OMIM:272300
Combined Oxidative Phosphorylation Deficiency 37	Lactic acidosis, Increased serum lactate, Hypoglycemia	OMIM:618329
Combined Oxidative Phosphorylation Defect Type 27	Increased serum lactate	ORPHA:477774
Pontocerebellar Hypoplasia, Type 6	Increased serum lactate, Death in childhood	OMIM:611523
Multiple Acyl-Coa Dehydrogenase Deficiency	Lactic acidosis, Hypoglycemia, Metabolic acidosis	ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate	OMIM:619063
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Increased serum lactate, Lactic acidosis, Neonatal death, Episodic metabolic ac...	OMIM:605711
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis, Insulin resistance, Death in childhood	OMIM:214150
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate	OMIM:618416
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia	OMIM:212140
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate	OMIM:614652
Pituitary Stalk Interruption Syndrome	Death in infancy, Hypoglycemia	ORPHA:95496
Coenzyme Q10 Deficiency, Primary, 7	Increased serum lactate	OMIM:616276
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Death in infancy, Decreased serum bicarbonate concentration, Hypoglycemia	OMIM:608836
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased serum lactate	OMIM:617954
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased serum lactate	OMIM:619054
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Lactic acidosis, Increased serum lactate	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 13	Increased serum lactate	OMIM:614932
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia	OMIM:600649
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Immunodeficiency 44	Increased serum lactate	OMIM:616636
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Coenzyme Q10 Deficiency, Primary, 2	Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:614651
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Metabolic acidosis	OMIM:611555
Leber Optic Atrophy And Dystonia	Increased serum lactate	OMIM:500001
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Increased serum lactate	OMIM:614654
Timothy Syndrome	Hypoglycemia	OMIM:601005
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Death in infancy, Increased serum lactate	OMIM:617664
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate	ORPHA:45
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Glycerol Kinase Deficiency	Ketoacidosis, Hypertriglyceridemia, Hypoglycemia, Metabolic acidosis	OMIM:307030
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Death in infancy, Metabolic acidosis, Glycosuria	OMIM:613404
Charcot-Marie-Tooth Disease, Type 4K	Increased serum lactate	OMIM:616684
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Increased circulating free fatty acid level, Hypoketotic hypoglycemia	OMIM:610768
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
3-Methylglutaconic Aciduria Type 9	Increased serum lactate	ORPHA:505216
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Fanconi Renotubular Syndrome 3	Metabolic acidosis, Glycosuria	OMIM:615605
Glycogen Storage Disease Ic	Hypoglycemia, Hyperlipidemia, Lactic acidosis, Xanthelasma, Metabolic acidosis	OMIM:232240
Glycogen Storage Disease Ib	Lactic acidosis, Xanthelasma, Hyperlipidemia, Hypoglycemia	OMIM:232220
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:619051
Pyruvate Carboxylase Deficiency	Elevated lactate:pyruvate ratio, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metaboli...	ORPHA:3008
Dihydropyrimidinase Deficiency	Metabolic acidosis	OMIM:222748
Fanconi-Bickel Syndrome	Chronic acidosis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia, Acidosis	OMIM:227810
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Metabolic acidosis, Lactic acidosis	OMIM:616501
Pituitary Hormone Deficiency, Combined, 6	Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Leigh Syndrome	Hypoglycemia, Increased serum lactate, Ketoacidosis, Lactic acidosis, Renal tubular acidosis	ORPHA:506
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Mitochondrial Trifunctional Protein Deficiency 1	Lactic acidosis, Hypoketotic hypoglycemia	OMIM:609015
Combined Oxidative Phosphorylation Defect Type 39	Increased serum lactate, Neonatal hypoglycemia	ORPHA:565624
Spinocerebellar Ataxia With Epilepsy	Increased serum lactate	ORPHA:254881
Dilated Cardiomyopathy With Ataxia	Increased serum lactate, Elevated circulating glutaric acid concentration, Neonatal hypoglycemia	ORPHA:66634
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Death in infancy	OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Elevated lactate:pyruvate ratio, Death in infancy, Lactic acidosis, Increased serum lactate	OMIM:604377
Isolated Complex I Deficiency	Lactic acidosis, Diabetes mellitus, Hypoglycemia	ORPHA:2609
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Lactic acidosis, Death in infancy, Increased serum lactate	OMIM:614388
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Combined Oxidative Phosphorylation Deficiency 18	Increased serum lactate, Lactic acidosis	OMIM:615578
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Increased serum lactate, Hypocholesterolemia	OMIM:618810
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
3-Methylglutaconic Aciduria Type 7	Increased serum lactate, Neonatal hypoglycemia	ORPHA:445038
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Lactic acidosis, Hypoglycemia	OMIM:251880
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lactic acidosis, Increased serum lactate, Congenital lactic acidosis	ORPHA:79243
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
3-Methylglutaconic Aciduria, Type Ix	Increased serum lactate	OMIM:617698
Isovaleric Acidemia	Ketoacidosis, Metabolic acidosis	OMIM:243500
Developmental And Epileptic Encephalopathy 82	Increased serum lactate	OMIM:618721
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Metabolic acidosis, Distal renal tubular acidosis, Hyperchloremic metabolic acidosis	OMIM:611590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Increased serum lactate, Diabetes mellitus	OMIM:609286
Pancreatic And Cerebellar Agenesis	Death in infancy, Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Metabolic acidosis, Increased circulating free fatty acid level, Hypoketotic hypoglycemia	ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lactic acidosis, Increased serum lactate, Death in childhood	OMIM:615838
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:301025
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum lactate	OMIM:619224
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Increased serum lactate, Neonatal hypoglycemia	ORPHA:572798
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism	OMIM:620126
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased serum lactate	ORPHA:663
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Increased serum lactate, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia	OMIM:619418
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased serum lactate	OMIM:619026
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Methylmalonic acidemia	OMIM:614105
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis	OMIM:610773
Harel-Yoon Syndrome	Increased serum lactate	OMIM:617183
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Increased serum lactate, Diabetes mellitus, Hypochloremic metabolic alkalosis	OMIM:613845
Adult Acute Respiratory Distress Syndrome	Metabolic acidosis, Diabetic ketoacidosis	ORPHA:70578
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism	OMIM:620125
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Mitochondrial Complex I Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Death in infancy, Hypoglycemia, Lactic acidosis, Severe lactic a...	OMIM:252010
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia	OMIM:607143
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Metabolic acidosis	ORPHA:88639
Leigh Syndrome	Lactic acidosis, Increased serum lactate	OMIM:256000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Increased serum lactate, Lactic acidosis, Death in childhood, Renal Fanconi syndrome, Glycosuria	OMIM:220110
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis	OMIM:250950
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremic metabolic acidosis	OMIM:614492
Pontocerebellar Hypoplasia, Type 9	Increased serum lactate	OMIM:615809
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Metabolic acidosis, Distal renal tubular acidosis	OMIM:602722
D-Glyceric Aciduria	Metabolic acidosis, Increased circulating free fatty acid level	ORPHA:941
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased serum lactate	OMIM:619170
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Increased serum lactate, Death in childhood	OMIM:618397
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased serum lactate, Glucose intolerance, Impaired glucose tolerance	OMIM:610131
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Lactic acidosis, Recurrent hypoglycemia, Hypoglycemia, Metabolic acidosis	OMIM:256810
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia, Increased serum lactate, Metabolic acidosis	ORPHA:20
Leukodystrophy, Hypomyelinating, 4	Increased serum lactate	OMIM:612233
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Increased serum lactate, Death in childhood	OMIM:604273
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Increased serum lactate	OMIM:619060
3-Methylglutaconic Aciduria, Type Viib	Increased serum lactate, Neonatal hypoglycemia	OMIM:616271
Generalized Glucocorticoid Resistance Syndrome	Metabolic alkalosis, Increased circulating cortisol level, Hypoglycemia	ORPHA:786
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Metabolic acidosis, Hyperaldosteronism	OMIM:264350
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis	OMIM:145260
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Hypoglycemia	OMIM:608779
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Lactic acidosis, Increased serum lactate, Hypoglycemia, Methylmalonic acidemia	ORPHA:17
Congenital Short Bowel Syndrome	Metabolic acidosis, Steatorrhea	OMIM:615237
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Decreased circulating cortisol level, Hypoglycemia	ORPHA:199299
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Lactic acidosis, Xanth...	ORPHA:79259
Fructose Intolerance, Hereditary	Hypoglycemia, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Glycosuria	OMIM:229600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Increased serum lactate	OMIM:616479
Combined Oxidative Phosphorylation Defect Type 13	Increased serum lactate	ORPHA:319514
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum lactate	ORPHA:1349
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:617021
Liver Failure, Infantile, Transient	Lactic acidosis, Death in infancy, Increased serum lactate	OMIM:613070
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Hypoglycemia, Hyperkalemic metabolic acidosis	ORPHA:95409
Childhood-Onset Spasticity With Hyperglycinemia	Increased serum lactate	ORPHA:401866
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Metabolic acidosis, Hyperlipidemia, Hypoketotic hypoglycemia	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 14	Lactic acidosis, Death in infancy, Increased serum lactate, Death in childhood	OMIM:614946
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Increased serum lactate, Renal tubular acidosis	ORPHA:324525
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Lactic acidosis, Increased serum lactate, Methylmalonic acidemia	OMIM:612073
Pituitary Apoplexy	Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Death in infancy, Increased serum lactate, Neonatal hypoglycemia	OMIM:617248
Galactosemia I	Metabolic acidosis, Hyperchloremic metabolic acidosis	OMIM:230400
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Acquired Methemoglobinemia	Acidosis	ORPHA:464453
Glycogen Storage Disease Xi	Increased serum lactate	OMIM:612933
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Glycos...	ORPHA:3337
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Metabolic acidosis, Hyperaldosteronism	OMIM:177735
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremic metabolic acidosis	OMIM:614496
Sotos Syndrome	Glucose intolerance, Neonatal hypoglycemia	OMIM:117550
Mirage Syndrome	Hypoglycemia	OMIM:617053
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Increased serum lactate, Metabolic acidosis	OMIM:619053
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Increased serum lactate, Severe lactic acidosis	OMIM:615418
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Hypoglycemia	ORPHA:90790
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Fanconi Renotubular Syndrome 1	Metabolic acidosis, Glycosuria	OMIM:134600
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:618250
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypoglycemia, Metabolic acidosis	ORPHA:79282
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased serum lactate, Metabolic acidosis	OMIM:618528
Hereditary Fructose Intolerance	Metabolic acidosis, Reactive hypoglycemia	ORPHA:469
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
Sudden Cardiac Failure, Infantile	Metabolic acidosis	OMIM:617222
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Developmental And Epileptic Encephalopathy 51	Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:617339
Tyrosinemia, Type I	Metabolic acidosis, Renal Fanconi syndrome, Hypoglycemia	OMIM:276700
Addison Disease	Type I diabetes mellitus, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemic metabo...	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 serum lactate	ORPHA:2364
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Increased serum lactate	OMIM:616239
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Lactic acidosis, Increased serum lactate	OMIM:600462
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Increased serum lactate	OMIM:614462
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Hypoglycemia, Increased serum lactate, Lactic acidosis, Severe lactic acidosis,...	OMIM:220111
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia	OMIM:131100
Infantile Nephropathic Cystinosis	Acidosis, Renal Fanconi syndrome, Hyperchloremic metabolic acidosis, Glycosuria	ORPHA:411629
Sheehan Syndrome	Decreased circulating cortisol level, Hypoglycemia	ORPHA:91355
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate, Death in childhood	OMIM:617186
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis	ORPHA:79155
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Increased serum lactate	ORPHA:496790
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Lactic acidosis, Glucose intolerance, Increased serum lactate, Glycosuria	OMIM:616539
Mitochondrial Complex I Deficiency, Nuclear Type 37	Lactic acidosis, Increased serum lactate	OMIM:619272
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Hypoketotic hypoglycemia	ORPHA:157
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Death in infancy, Hypoglycemia	OMIM:617156
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased serum lactate	ORPHA:137898
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular acidosis, Death in infancy, Metabolic acidosis	OMIM:208085
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis, Metabolic acidosis	OMIM:615595
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Neonatal death, Lactic acidosis, Increased serum lactate, Death in childhood	OMIM:614052
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis	OMIM:251120
Pearson Marrow-Pancreas Syndrome	Lactic acidosis, Death in childhood, Metabolic acidosis, Renal Fanconi syndrome, Steatorrhea, Typ...	OMIM:557000
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased serum lactate	OMIM:612949
Hyperaldosteronism, Familial, Type Iii	Metabolic acidosis, Hyperaldosteronism	OMIM:613677
Histiocytoid Cardiomyopathy	Lactic acidosis, Hypoglycemia	ORPHA:137675
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia	ORPHA:90791
Combined Oxidative Phosphorylation Deficiency 3	Elevated lactate:pyruvate ratio, Death in infancy, Increased serum lactate, Lactic acidosis, Seve...	OMIM:610505
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Increased serum lactate, Death in childhood	OMIM:619847
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Mitochondrial Dna Depletion Syndrome 19	Increased serum lactate	OMIM:618972
Optic Atrophy 11	Increased serum lactate	OMIM:617302
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased serum lactate	ORPHA:438114
Amish Lethal Microcephaly	Metabolic acidosis, Death in infancy	ORPHA:99742
Generalized Pseudohypoaldosteronism Type 1	Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic acidosis	ORPHA:171876
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Alg12-Cdg	Recurrent hypoglycemia, Hypocholesterolemia	ORPHA:79324
Adenine Phosphoribosyltransferase Deficiency	Metabolic acidosis	OMIM:614723
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Metabolic acidosis	OMIM:620152
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Holoprosencephaly	Diabetes mellitus, Hypoglycemia	ORPHA:2162
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum lactate	OMIM:619405
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum lactate, Death in childhood	OMIM:619147
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Acidosis, Neonatal hypoglycemia	ORPHA:168558
Shigellosis	Hypoglycemia	ORPHA:810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Acidosis, Neonatal hypoglycemia	ORPHA:289548
Combined Oxidative Phosphorylation Deficiency 7	Increased serum lactate	OMIM:613559
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Lactic acidosis, Renal tubular acidosis, Increased serum lactate	OMIM:615471
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Renal Hypoplasia, Bilateral	Metabolic acidosis, Glycosuria	ORPHA:97362
Myopathy With Lactic Acidosis, Hereditary	Lactic acidosis, Increased serum lactate	OMIM:255125
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Leprechaunism	Insulin resistance, Hyperinsulinemia, Hyperaldosteronism, Recurrent infantile hypoglycemia, Fasti...	ORPHA:508
Combined Oxidative Phosphorylation Deficiency 33	Lactic acidosis, Increased serum lactate	OMIM:617713
Deeah Syndrome	Death in infancy, Death in adolescence, Neonatal hypoglycemia, Death in childhood	OMIM:619004
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Melas	Diabetes mellitus, Increased serum lactate, Lactic acidosis, Type II diabetes mellitus, Type I di...	ORPHA:550
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased serum lactate	OMIM:618598
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Increased serum lactate	OMIM:620089
Combined Oxidative Phosphorylation Deficiency 27	Increased serum lactate	OMIM:616672
Acute Liver Failure	Acidosis, Hypoglycemia, Alkalosis	ORPHA:90062
Holocarboxylase Synthetase Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:253270
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Lactic acidosis, Increased serum lactate	OMIM:251900
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased serum lactate, Metabolic acidosis, Death in childhood	OMIM:618252
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent hypoglycemia, Decreased circulating cortisol level	ORPHA:293978
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Increased serum lactate, Death in childhood	OMIM:618321
Perlman Syndrome	Hypoglycemia	OMIM:267000
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate	ORPHA:521411
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Elevated serum anion gap, Metabolic acidosis	OMIM:251100
Marburg Hemorrhagic Fever	Lactic acidosis, Abnormality of acid-base homeostasis, Hypoglycemia	ORPHA:99826
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Simpson-Golabi-Behmel Syndrome	Death in infancy, Hypoglycemia	ORPHA:373
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hypercholesterolemia, Acidosis	ORPHA:275761
Menkes Disease	Hypoglycemia	ORPHA:565
Beta-Ureidopropionase Deficiency	Increased serum lactate, Metabolic acidosis	OMIM:613161
Combined Oxidative Phosphorylation Deficiency 12	Lactic acidosis, Increased serum lactate	OMIM:614924
Diarrhea 10, Protein-Losing Enteropathy Type	Metabolic acidosis, Death in infancy, Hypertriglyceridemia	OMIM:618183
Pearson Syndrome	Elevated lactate:pyruvate ratio, Diabetes mellitus, Increased serum lactate, Lactic acidosis, Gly...	ORPHA:699
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Metabolic acidosis	OMIM:251110
Combined Oxidative Phosphorylation Deficiency 55	Increased serum lactate, Renal Fanconi syndrome	OMIM:619743
Autosomal Dominant Progressive External Ophthalmoplegia	Increased serum lactate, Glucose intolerance, Diabetes mellitus	ORPHA:254892
Colchicine Poisoning	Lactic acidosis, Abnormality of acid-base homeostasis, Metabolic acidosis	ORPHA:31824
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Miscarriage, Hyperkalemic metabolic acidosis, Neonatal hypo...	ORPHA:90794
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
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Episodic ketoacidosis	OMIM:245050
Microvillus Inclusion Disease	Metabolic acidosis	ORPHA:2290
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoglycemia	OMIM:613658
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased serum lactate	ORPHA:70595
Ethylene Glycol Poisoning	Lactic acidosis, Elevated serum anion gap, Metabolic acidosis	ORPHA:31826
Bacterial Toxic-Shock Syndrome	Increased serum lactate, Metabolic acidosis	ORPHA:36234
Neurooculorenal Syndrome	Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:620305
Hawkinsinuria	Metabolic acidosis	OMIM:140350
Vici Syndrome	Acidosis	OMIM:242840
Combined Oxidative Phosphorylation Deficiency 29	Increased serum lactate	OMIM:616811
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased serum lactate	OMIM:618249
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Lactic acidosis, Increased serum lactate	OMIM:620358
Neurodegeneration And Seizures Due To Copper Transport Defect	Increased serum lactate	OMIM:620306
Combined Oxidative Phosphorylation Defect Type 29	Increased serum lactate	ORPHA:478029
Fumarase Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:606812
Beckwith-Wiedemann Syndrome	Hypoglycemia, Neonatal hypoglycemia	ORPHA:116
Costello Syndrome	Hypoglycemia	OMIM:218040
Rett Syndrome	Increased serum lactate	ORPHA:778
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased serum lactate	OMIM:157640
Proximal Spinal Muscular Atrophy	Metabolic acidosis	ORPHA:70
Cardiogenic Shock	Increased serum lactate, Metabolic acidosis	ORPHA:97292
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Metabolic acidosis	OMIM:277400
Sepsis In Premature Infants	Metabolic acidosis	ORPHA:90051
Juvenile Nephropathic Cystinosis	Metabolic acidosis, Renal Fanconi syndrome, Glycosuria	ORPHA:411634
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Metabolic acidosis	OMIM:615895
Cystinosis, Nephropathic	Diabetes mellitus, Metabolic acidosis, Renal Fanconi syndrome, Glycosuria, Episodic metabolic aci...	OMIM:219800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased serum lactate	OMIM:274150
Lujo Hemorrhagic Fever	Metabolic acidosis	ORPHA:319213
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased serum lactate	OMIM:607459
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Metabolic acidosis, Renal tubular acidosis	OMIM:619575
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Increased serum lactate, Proximal renal tubular acidosis, Hyperaldosteronism, H...	ORPHA:534
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hypoglycemia, Elevated serum 11-deoxycortisol	OMIM:201750
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum lactate	OMIM:618222
Osteopetrosis With Renal Tubular Acidosis	Renal tubular acidosis, Distal renal tubular acidosis, Metabolic acidosis, Proximal renal tubular...	ORPHA:2785
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Combined Oxidative Phosphorylation Deficiency 15	Increased serum lactate	OMIM:614947
Neuroleptic Malignant Syndrome	Metabolic acidosis	ORPHA:94093
Malignant Hyperthermia Of Anesthesia	Metabolic acidosis	ORPHA:423
Primary Hyperoxaluria Type 1	Metabolic acidosis	ORPHA:93598
Congenital Disorder Of Deglycosylation 1	Increased serum lactate	OMIM:615273
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Immunodeficiency 87 And Autoimmunity	Metabolic acidosis, Hypertriglyceridemia	OMIM:619573
Mitochondrial Dna-Associated Leigh Syndrome	Increased serum lactate	ORPHA:255210
Hyperoxaluria, Primary, Type I	Metabolic acidosis	OMIM:259900
Cerebrotendinous Xanthomatosis	Increased serum lactate	ORPHA:909
Lysinuric Protein Intolerance	Increased serum lactate	OMIM:222700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Increased serum lactate	OMIM:203700
Primary Hyperoxaluria	Metabolic acidosis	ORPHA:416
Liver Disease, Severe Congenital	Metabolic acidosis, Hyperinsulinemic hypoglycemia	OMIM:619991
Biliary, Renal, Neurologic, And Skeletal Syndrome	Neonatal death, Hypercholesterolemia, Increased serum lactate, Metabolic acidosis	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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