Citrullinemia
MONDO:0015991Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).
Also known as: deficiency of citrulline-aspartate ligase, ass deficiency
8 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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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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New study aims to detect liver damage without needles
Knowledge-focused OngoingThis study looks at whether simple blood tests and special scans can detect liver scarring in people with urea cycle disorders. Researchers will enroll 62 participants across five U.S. centers. The goal is to find noninvasive ways to monitor liver health, avoiding the need for li…
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 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