inborn disorder of amino acid metabolism
MONDO:0004736Mondo
Findings
No curated finding names inborn disorder of amino acid metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Definition from the Mondo Disease Ontology (MONDO:0004736), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (33)
- 2-methylacetoacetyl CoA thiolase deficiency
- adenine phosphoribosyltransferase deficiency
- adenylosuccinate lyase deficiency
- albinism
- aminoacylase 1 deficiency
- arakawa syndrome 2
- Brunner syndrome
- cerebral creatine deficiency syndrome
- cystathioninuria
- disorder of methionine catabolism
- gamma-amino butyric acid metabolism disorder
- glycine encephalopathy
- homocystinuria
- hyperglycinemia, transient neonatal
- hyperlysinemia
- hyperphenylalaninemia due to DNAJC12 deficiency
- hyperphenylalaninemia due to tetrahydrobiopterin deficiency
- inborn disorder of amino acid transport
- inborn disorder of branched-chain amino acid metabolism
- inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism
- inborn disorder of glycine and serine metabolism
- inborn disorder of histidine metabolism
Other names
5 names
Resolves to: inborn disorder of amino acid metabolism
- Also called
- inborn cellular amino acid metabolic process disorderinborn error of amino acid metabolisminborn error of cellular amino acid metabolic processinherited amino acid metabolic disorderrare inborn error of cellular amino acid metabolic process