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
9 clinical trials for this condition and its sub-types.
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New hope for babies with rare enzyme disorder: weekly shot shows promise
Disease control CompletedThis study tested a weekly injection of pegzilarginase (Loargys) in 3 infants under 24 months old with arginase 1 deficiency, a rare genetic disorder that causes harmful buildup of arginine. The goal was to see if the drug is safe and can lower arginine levels in the blood. The t…
Phase: PHASE3 • Sponsor: Immedica Pharma AB • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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Simple supplement could ease COPD breathlessness
Symptom relief CompletedThis study tested whether taking a daily arginine supplement (Bioarginine) for 6 weeks can improve breathing and daily activities in people with COPD. 153 participants were randomly assigned to receive the supplement or a placebo on top of their usual inhaled medications. The goa…
Phase: NA • Sponsor: University of Milan • Aim: Symptom relief
Last updated Jun 27, 2026 12:30 UTC