urea cycle disorder or inherited hyperammonemia
MONDO:0800153Mondo
Findings
No curated finding names urea cycle disorder or inherited hyperammonemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).
Definition from the Mondo Disease Ontology (MONDO:0800153), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- HyperammonemiaMondoHP:0001987
Where it sits
- A kind of
- Narrower terms (10)
- arginase deficiency
- argininosuccinic aciduria
- carbamoyl phosphate synthetase I deficiency disease
- citrin deficiency
- citrullinemia type I
- hyperammonemia due to N-acetylglutamate synthase deficiency
- hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- hyperinsulinism-hyperammonemia syndrome
- ornithine carbamoyltransferase deficiency
- ornithine translocase deficiency