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Term:
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
Amino Acid Transport Disorders, Inborn +   
Amobarbital, Deficient N-Hydroxylation of 
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
bilirubin metabolic disorder +   
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Exocrine Pancreatic Insufficiency 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Resistance  
Coumarin Sensitivity  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glycerol kinase deficiency  
Glycoprotein Storage Disease 
Glyoxalase II Deficiency 
Gordon Holmes syndrome  
Greenberg dysplasia  
Growth Factors, Combined Defect of 
Hereditary Hyperbilirubinemia +   
Hyaluronan Metabolism, Defect in 
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hypoadiponectinemia  
Hypokalemia, Familial 
Inosine Triphosphatase Deficiency  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Kallikrein, Decreased Urinary Activity of  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial complex II deficiency  
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
overhydrated hereditary stomatocytosis  
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
progeria +   
Proguanil, Poor Metabolism of  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
Succinic Acidemia 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency  
Uridine-Cytidineuria  
vitamin metabolic disorder +   
Warfarin Sensitivity  
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
 2-aminoadipic 2-oxoadipic aciduria  
 2-hydroxyglutaric aciduria +   
 2-Methylacetoacetyl CoA Thiolase Deficiency 
 2-Methylbutyryl-CoA Dehydrogenase Deficiency  
 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
 3-Hydroxyisobutyric Aciduria 
 5-Oxoprolinase Deficiency  
 Adams Nance Syndrome 
 adenine phosphoribosyltransferase deficiency  
 adenylosuccinase lyase deficiency  
 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
 Albinism +   
 alkaptonuria +   
 Alpha-Ketoglutarate Dehydrogenase Deficiency  
 Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
 Aminoacylase 1 Deficiency  
 Arakawa Syndrome 2  
 argininosuccinic aciduria  
 aromatic L-amino acid decarboxylase deficiency  
 Asparagine Synthetase Deficiency  
 Beta-Aminoisobutyric Acid, Urinary Excretion of  
 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
 beta-ketothiolase deficiency  
 BH4-deficient hyperphenylalaninemia A  
 Blue Diaper Syndrome 
 branched-chain keto acid dehydrogenase kinase deficiency  
 Brunner syndrome  
 Camptodactyly Taurinuria 
 carboxypeptidase N deficiency  
 cerebral creatine deficiency syndrome +   
 cystathioninuria  
 Cysteine Peptiduria 
 cystinuria +   
 Diaminopentanuria 
 Dibasic Amino Aciduria I 
 dicarboxylic aminoaciduria  
 Dimethylglycine Dehydrogenase Deficiency  
 fumarase deficiency  
 GABA aminotransferase deficiency  
 gamma-amino butyric acid metabolism disorder +   
 gamma-glutamyl transpeptidase deficiency  
 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
 Glucoglycinuria 
 Glutamate Monosodium Sensitivity 
 glutamate-cysteine ligase deficiency  
 Glutamine Deficiency, Congenital  
 Glutaric Aciduria +   
 Glutathione Synthetase Deficiency  
 glycine encephalopathy +   
 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
 Glycinuria with or without Oxalate Urolithiasis  
 Hartnup disease  
 histidine metabolism disease +   
 histidinemia  
 homocystinuria +   
 Hydroxykynureninuria  
 Hydroxyprolinemia 
 hyperhomocysteinemia +   
 Hyperleucine-Isoleucinemia 
 hyperlysinemia +   
 hypermethioninemia +   
 hyperprolinemia +   
 Hypertaurinuric Cardiomyopathy 
 Hypertryptophanemia +   
 Ichthyosis, Split Hairs, and Amino Aciduria 
 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
 Indolylacroyl Glycinuria with Mental Retardation 
 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
 Isobutyryl-CoA Dehydrogenase Deficiency  
 isolated sulfite oxidase deficiency  
 isovaleric acidemia  
 Ketoadipicaciduria 
 Lysine Malabsorption Syndrome 
 lysinuric protein intolerance  
 MALEYLACETOACETATE ISOMERASE DEFICIENCY  
 maple syrup urine disease +   
 Mercaptolactate-Cysteine Disulfiduria 
 Methionine Malabsorption Syndrome 
 Methylmalonate Semialdehyde Dehydrogenase Deficiency  
 methylmalonic acidemia +   
 Methylmalonyl-CoA Epimerase Deficiency +   
 Mitochondrial Complex I Deficiency, Nuclear Type 20  
 mitochondrial DNA depletion syndrome 5  
 multiple acyl-CoA dehydrogenase deficiency +   
 multiple carboxylase deficiency +   
 Myopathy due to Malate-Aspartate Shuttle Defect 
 N-Acetylaspartate Deficiency  
 organic acidemia +   
 ornithine translocase deficiency  
 pentosuria  
 phenylketonuria +   
 prolidase deficiency  
 propionic acidemia +   
 Richards-Rundle Syndrome 
 Sarcosinemia  
 serine deficiency +   
 succinic semialdehyde dehydrogenase deficiency  
 systemic primary carnitine deficiency disease  
 Tiglic Acidemia 
 Tryptophanuria with Dwarfism 
 tyrosinemia +   
 Tyrosinosis 
 urea cycle disorder +   
 Urocanase Deficiency  
 Valinemia 
 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  

Synonyms
Exact Synonyms: Amino Acid Metabolism, Inborn Error ;   Amino Acid Metabolism, Inborn Errors ;   Amino Acid Metabolism, Inherited Disorders ;   Congenital Amino Acidopathies ;   Congenital Amino Acidopathy ;   Inborn Amino Acidopathies ;   Inborn Amino Acidopathy ;   inborn amino acid metabolism disorders ;   inborn errors of amino acid metabolism ;   inherited errors of amino acid metabolism
Primary IDs: MESH:D000592
Alternate IDs: RDO:0000357
Xrefs: GARD:5793 ;   ICD10CM:E72.9 ;   ICD9CM:270 ;   ICD9CM:270.9 ;   NCI:C97090
Definition Sources: MESH:D000592, http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism

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