Urea cycle disorder or inherited hyperammonemia

MONDO:0800153

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).

26 clinical trials for this condition and its sub-types, 0 tagged with Urea cycle disorder or inherited hyperammonemia itself.

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Where it sits in the disease tree

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Part of

↑ Urea cycle disorder (30)

Sub-types of Urea cycle disorder or inherited hyperammonemia

Ornithine carbamoyltransferase deficiency 16 trials
Arginase deficiency 8 trials
Argininosuccinic aciduria 4 trials
Carbamoyl phosphate synthetase I deficiency disease 4 trials
Citrullinemia type I 4 trials
2 sub-types
- Acute neonatal citrullinemia type I 0 trials
- Adult-onset citrullinemia type I 0 trials
Citrin deficiency 3 trials
2 sub-types
- Citrullinemia type II 0 trials Sub-types →
- Neonatal intrahepatic cholestasis due to citrin deficiency 0 trials
Ornithine translocase deficiency 3 trials
Hyperammonemia due to N-acetylglutamate synthase deficiency 2 trials
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 1 trial
Hyperinsulinism-hyperammonemia syndrome 1 trial

Most studied deeper sub-types

Citrullinemia, type II, adult-onset (0)

Including sub-types (26) Tagged with Urea cycle disorder or inherited hyperammonemia (0)

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