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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 
aceruloplasminemia  
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (DO)
Amino Acid Transport Disorders, Inborn +   
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  
cerebral amyloid angiopathy +   
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
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 Sensitivity  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Defect in Hyaluronan Metabolism 
Defect in Hydroxylation of Diphenylhydantoin 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
dopamine beta-hydroxylase deficiency  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
familial hypocalciuric hypercalcemia +   
Familial Hypokalemia +   
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glycoprotein Storage Disease  
Glyoxalase II Deficiency  
Gordon Holmes syndrome  
Greenberg dysplasia  
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
hyperphosphatemic familial tumoral calcinosis +   
Hypoadiponectinemia  
hypoinsulinemic hypoglycemia with hemihypertrophy  
immunodeficiency 43  
immunoglobulin light chain amyloidosis  
Inosine Triphosphatase Deficiency  
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  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
maturity-onset diabetes of the young +   
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Monocyte Esterase Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
neonatal diabetes mellitus with congenital hypothyroidism  
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
overhydrated hereditary stomatocytosis  
permanent neonatal diabetes mellitus +   
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  
Poor Metabolism of Proguanil  
porphyria +   
progeria +   
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 
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY  
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  
type 1 diabetes mellitus 2  
Uridine-Cytidineuria  
variant ABeta2M amyloidosis 
vitamin metabolic disorder +   
warfarin resistance  
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 
 adenylosuccinase lyase deficiency  
 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
 Albinism +   
 alkaptonuria +   
 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 +   
 homocystinuria +   
 homocystinuria-megaloblastic anemia cblG type  
 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 
 leucine-sensitive hypoglycemia of infancy  
 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 DNA depletion syndrome 5  
 multiple acyl-CoA dehydrogenase deficiency +   
 multiple carboxylase deficiency +   
 Myopathy due to Malate-Aspartate Shuttle Defect 
 N-Acetylaspartate Deficiency  
 nuclear type mitochondrial complex I deficiency 20  
 organic acidemia +   
 ornithine translocase deficiency  
 Oxoglutarate Dehydrogenase 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 +   
 Valinemia +   
 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  

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

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