Carbamoyl-Phosphate Synthetase 1 Deficiency |
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Hypoargininemia, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Hyperammonemia |
OMIM:614111 |
Patent Ductus Venosus |
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Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Argininemia |
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Hyperammonemia |
ORPHA:90 |
Hyperlysinuria With Hyperammonemia |
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Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Asymptomatic hyperammonemia |
OMIM:606762 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
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Abnormal circulating leucine concentration, Hyperammonemia |
ORPHA:6 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Increased serum pyruvate, Hyperammonemia, Elevated circulating suberic acid concentration, Elevat... |
OMIM:615160 |
Saccharopinuria |
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Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... |
ORPHA:3124 |
N-Acetylglutamate Synthase Deficiency |
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Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
Propionic Acidemia |
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Hyperammonemia |
ORPHA:35 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Ornithine Transcarbamylase Deficiency |
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Hyperammonemia |
ORPHA:664 |
Splenoportal Vascular Anomalies |
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Hyperammonemia |
OMIM:271500 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Asymptomatic hyperammonemia |
ORPHA:35878 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Hyperammonemia |
ORPHA:28 |
Mitochondrial Dna Depletion Syndrome 17 |
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Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
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Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618416 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
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Hyperammonemia, Low plasma citrulline, Hypoargininemia, Episodic ammonia intoxication |
OMIM:237300 |
Developmental And Epileptic Encephalopathy 82 |
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Hyperammonemia |
OMIM:618721 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
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Hyperammonemia |
OMIM:620137 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
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Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Pyruvate Dehydrogenase E3 Deficiency |
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Hyperisoleucinemia, Elevated circulating branched chain amino acid concentration, Hyperammonemia,... |
ORPHA:2394 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Hyperalaninemia, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia |
ORPHA:927 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Citrullinemia, Type Ii, Adult-Onset |
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Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
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Hyperalaninemia, Hyperammonemia |
OMIM:614739 |
Argininosuccinic Aciduria |
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Hypoargininemia, Hyperglutaminemia, Hyperammonemia |
ORPHA:23 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Hyperalaninemia, Hyperammonemia |
OMIM:614702 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hyperammonemia |
ORPHA:289916 |
Citrullinemia Type I |
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Elevated plasma citrulline, Hyperammonemia |
ORPHA:247525 |
Infantile Liver Failure Syndrome 2 |
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Hyperammonemia |
OMIM:616483 |
Congenital Disorder Of Glycosylation, Type Ip |
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Hyperammonemia |
OMIM:613661 |
Glutamine Deficiency, Congenital |
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Hypoglutaminemia, Hyperammonemia |
OMIM:610015 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Decreased plasma total carnitine, Elevated circulating creatine kinase concentration, Hyperammonemia |
ORPHA:42 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Hyperornithinemia, Hyperammonemia |
OMIM:238970 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hyperammonemia |
ORPHA:79312 |
Carnitine Palmitoyltransferase I Deficiency |
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Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:255120 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Hypoargininemia |
OMIM:219150 |
Combined Oxidative Phosphorylation Deficiency 5 |
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Hyperammonemia |
OMIM:611719 |
Carnitine Deficiency, Systemic Primary |
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Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212140 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Hyperammonemia |
OMIM:610678 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hyperammonemia |
ORPHA:27 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Isolated Atp Synthase Deficiency |
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Hyperalaninemia, Hyperammonemia |
ORPHA:254913 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
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Hyperammonemia |
OMIM:618253 |
Propionic Acidemia |
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Hyperglycinemia, Hyperammonemia |
OMIM:606054 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
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Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Hyperammonemia |
ORPHA:1194 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
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Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper... |
OMIM:620358 |
Hsd10 Disease, Infantile Type |
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Hyperammonemia |
ORPHA:391428 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia |
OMIM:251000 |
Citrullinemia, Classic |
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Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Hyp... |
OMIM:215700 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration... |
OMIM:620300 |
Holocarboxylase Synthetase Deficiency |
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Hyperammonemia |
ORPHA:79242 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem... |
OMIM:311250 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:201475 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Acute hyperammonemia, Hyperleucinemia, Hyperammonemia |
OMIM:210210 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... |
ORPHA:71212 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Elevated circulating acylcarnitine concentration, Elevated creatine kinase after exercise, Hypera... |
ORPHA:99901 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
OMIM:609015 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated circulating acylcarnitine concentration, Elevated creatine kinase after exercise, Hypera... |
ORPHA:159 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Citrullinemia Type Ii |
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Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
ORPHA:26791 |
Wolcott-Rallison Syndrome |
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Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Hyperammonemia |
OMIM:616672 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Methylmalonic Aciduria, Cblb Type |
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Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia |
OMIM:251110 |
Infantile Liver Failure Syndrome 3 |
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Hyperammonemia |
OMIM:618641 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperammonemia |
OMIM:615453 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Pyruvate Carboxylase Deficiency |
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Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Hyperammonemia |
OMIM:615471 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia |
OMIM:210200 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Argininosuccinic Aciduria |
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Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication |
OMIM:207900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia |
OMIM:251100 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
OMIM:616878 |
Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia |
ORPHA:778 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
ORPHA:480864 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia |
OMIM:253270 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Hyperammonemia |
OMIM:614052 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Hyperammonemia |
ORPHA:20 |
Argininemia |
|
Hyperargininemia, Hyperammonemia |
OMIM:207800 |
Biotinidase Deficiency |
|
Hyperammonemia |
OMIM:253260 |
Hyperlysinemia |
|
Hyperlysinemia, Hypoornithinemia, Hyperammonemia |
ORPHA:2203 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Developmental And Epileptic Encephalopathy 50 |
|
Hyperammonemia |
OMIM:616457 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Methylmalonic acidemia, Hypomethioninemia, Hyperammonemia, Elevated circulating palmitoleylcarnit... |
ORPHA:79282 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Biotinidase Deficiency |
|
Hyperammonemia |
ORPHA:79241 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Abnormal circulating citrulline concentration, Hyperammonemia |
ORPHA:415 |
Interstitial Lung And Liver Disease |
|
Hyperammonemia |
OMIM:615486 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypolysinemia, Hyperammonemia |
OMIM:222700 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Acute Liver Failure |
|
Hyperammonemia |
ORPHA:90062 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperammonemia |
OMIM:220111 |