Arginase deficiency
MONDO:0008814Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Also known as: arginase deficiency, argininemia, hyperargininemia, Arg1 deficiency
11 clinical trials for this condition and its sub-types, 8 tagged with Arginase deficiency itself.
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New hope for kids with rare metabolic disease: 5-Year trial launches
Disease control Recruiting nowThis study is testing a drug called glycerol phenylbutyrate in 40 Chinese children with urea cycle disorders, a rare genetic condition that causes dangerous ammonia buildup. The drug aims to help control ammonia levels over 5 years. Researchers will monitor safety and effectivene…
Sponsor: Tongji Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:25 UTC
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New blood test safety check for rare disease drug monitoring
Knowledge-focused Recruiting nowThis study looks at the safety of a special blood test system used to measure arginine levels in people with ARG1 deficiency who are taking the drug Loargys. The test system includes special blood collection tubes that stop the drug from breaking down arginine after the sample is…
Sponsor: Immedica Pharma US Inc • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC