Term Name: amino acid metabolic disorder
Synonyms: inborn errors of amino acid metabolism
Definition: An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
Ontology: Human Disease [DOID:9252]   ( DOID:9252 )

Relationships
is a type of: inherited metabolic disorder
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 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 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 glutamate-cysteine ligase 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