Citrin deficiency
MONDO:0016602Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
Also known as: citrin deficiency
6 clinical trials for this condition and its sub-types.
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Blood tests could unlock secrets of rare metabolic disease
Knowledge-focused OngoingCitrin deficiency is a rare, underdiagnosed condition that affects the liver and metabolism. There is no cure, and patients manage symptoms with lifelong diet changes. This study analyzes blood samples from 100 patients to find biomarkers that could help track disease severity an…
Sponsor: Johannes Haeberle • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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Scientists probe liver fuel problems in rare citrin deficiency
Knowledge-focused OngoingThis study looks at how the liver processes energy and removes ammonia in people with citrin deficiency, a rare genetic disorder. Researchers will give participants special 'labeled' water, fructose, and ammonium chloride to track liver activity. By comparing 10 patients with 10 …
Phase: NA • Sponsor: Johannes Haeberle • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC