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Term:
amino acid metabolic disorder
(DOID:9252)
Annotations:
Rat: (1586)
Mouse: (1589)
Human: (1907)
Chinchilla: (1476)
Bonobo: (1608)
Dog: (1568)
Squirrel: (1493)
Pig: (1548)
Naked Mole-rat: (1465)
Green Monkey: (1574)
Parent Terms
Term With Siblings
Child Terms
inherited metabolic disorder
+
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
Alpha-Fetoprotein, Hereditary Persistence of
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 Nonspherocytic Hemolytic Anemia 4
Congenital Nonspherocytic Hemolytic Anemia 5
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
Coumarin Sensitivity
Deafness Hyperuricemia Neurologic Ataxia
Decreased Urinary Activity of Kallikrein
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
immunodeficiency 43
immunoglobulin light chain amyloidosis
Inosine Triphosphatase Deficiency
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
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
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
+
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
Myeloperoxidase Deficiency
N Acetyltransferase Deficiency
+
neonatal diabetes mellitus with congenital hypothyroidism
Nonfunctional L-Gulonolactone Oxidase
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
poor metabolism of thiopurines
+
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)
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-hydroxyisobutryl-CoA hydrolase 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-ketothiolase deficiency
Blue Diaper Syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Brunner syndrome
Camptodactyly Taurinuria
carboxypeptidase N deficiency
cerebral creatine deficiency syndrome
+
congenital glutamine deficiency
cystathioninuria
Cysteine Peptiduria
cystinuria
+
developmental and epileptic encephalopathy 116
Diaminopentanuria
Dibasic Amino Aciduria I
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome
+
familial hypertryptophanemia
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
Glutaric Aciduria
+
glutathione synthetase deficiency
+
glycine encephalopathy
+
Glycinuria with or without Oxalate Urolithiasis
Hartnup disease
histidine metabolism disease
+
HMG-CoA synthase 2 deficiency
homocystinuria
+
hydroxykynureninuria
Hydroxyprolinemia
hyperhomocysteinemia
+
Hyperleucine-Isoleucinemia
hyperlysinemia
+
hypermethioninemia
+
hyperprolinemia
+
Hypertaurinuric Cardiomyopathy
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
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple acyl-CoA dehydrogenase deficiency
+
multiple carboxylase deficiency
+
Myopathy due to Malate-Aspartate Shuttle Defect
N-Acetylaspartate Deficiency
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with spastic paraplegia and microcephaly
nuclear type mitochondrial complex I deficiency 20
organic acidemia
+
oxoglutarate dehydrogenase deficiency
pentosuria
phenylketonuria
+
prolidase deficiency
propionic acidemia
+
Richards-Rundle Syndrome
sarcosinemia
serine deficiency
+
succinic semialdehyde dehydrogenase deficiency
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
+
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"