Urea cycle disorder
MONDO:0004739A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
Also known as: disorder of urea cycle metabolism, inborn disorder of urea cycle metabolism and ammonia detoxification, inborn urea cycle disorder, urea cycle disorders, urea cycle metabolism disorder, UCD, disorder of urea cycle metabolism and ammonia detoxification
30 clinical trials for this condition and its sub-types, 14 tagged with Urea cycle disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Urea cycle disorder
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Urea cycle disorder or inherited hyperammonemia 0 trials · 24 incl. sub-types
10 sub-types
- 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 Sub-types →
- Citrin deficiency 3 trials Sub-types →
- 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
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Citrullinemia 2 trials · 6 incl. sub-types
2 sub-types
- Citrullinemia type I 4 trials Sub-types →
- Citrin deficiency 3 trials Sub-types →