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 →
Most studied deeper sub-types
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Can a new injection tame the toxic ammonia of urea cycle disorders?
Disease control Not yet recruitingThis early-stage trial is evaluating an experimental drug called KRRO-121, given as a shot under the skin, to see if it is safe and tolerable. The study first tests KRRO-121 in healthy adults, then in people with urea cycle disorders—a group of inherited conditions that impair th…
Phase 1/2 • Sponsor: Korro Bio, Inc. • Aim: Disease control
Last updated Aug 22, 2026 00:00 UTC
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Could a breath test replace blood draws for metabolic disease monitoring?
Knowledge-focused Not yet recruitingThis study measures specific substances (metabolites) in the breath and blood of people with inherited metabolic disorders, those on a special ketogenic diet for epilepsy, and healthy volunteers. The goal is to see if a simple breath test can reliably track these metabolites, pot…
Sponsor: University Children's Hospital, Zurich • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC