amino acid metabolic disorder

Term ID

DOID:9252

Synonyms

inborn errors of amino acid metabolism

Definition

An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism

References

GARD:5793
ICD10CM:E72.9
ICD9CM:270
MESH:D000592
NCI:C97090
SNOMEDCT_US_2023_03_01:42930003
UMLS_CUI:C0002514

Ontology

Human Disease ( DOID:9252 )

Relationships

is a type of: inherited metabolic disorder

inherited metabolic disorder Show first 5 Terms
has subtype: 2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxyisobutryl-CoA hydrolase deficiency 3-methylcrotonyl-CoA carboxylase deficiency ... Show All 57 Terms

2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxyisobutryl-CoA hydrolase deficiency 3-methylcrotonyl-CoA carboxylase deficiency adenylosuccinase lyase deficiency alkaptonuria argininosuccinic aciduria beta-ketothiolase deficiency branched-chain keto acid dehydrogenase kinase deficiency Brunner Syndrome cerebral creatine deficiency syndrome congenital glutamine deficiency congenital nonspherocytic hemolytic anemia 7 cystathioninuria cystinuria developmental and epileptic encephalopathy 116 dicarboxylic aminoaciduria dimethylglycine dehydrogenase deficiency diphthamide deficiency syndrome familial hypertryptophanemia fumarase deficiency gamma-amino butyric acid metabolism disorder gamma-glutamyl transpeptidase deficiency glutathione synthetase deficiency glycine encephalopathy Hartnup disease hawkinsinuria histidine metabolism disease HMG-CoA synthase 2 deficiency homocystinuria homocystinuria-megaloblastic anemia cblE type homocystinuria-megaloblastic anemia cblG type hydroxykynureninuria hyperhomocysteinemia hyperlysinemia hypermethioninemia hyperprolinemia hypervalinemia and hyperleucine-isoleucinemia leucine-sensitive hypoglycemia of infancy lysinuric protein intolerance mitochondrial short-chain enoyl-CoA hydratase 1 deficiency multiple carboxylase deficiency neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities neurodevelopmental disorder with spastic paraplegia and microcephaly organic acidemia ornithine translocase deficiency oxoglutarate dehydrogenase deficiency pentosuria phenylketonuria prolidase deficiency sarcosinemia serine deficiency systemic primary carnitine deficiency disease tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia tyrosinemia urea cycle disorder Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models