Citrullinemia type I
MONDO:0008988Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).
Also known as: citrullinemia, ASS deficiency, CTLN1, argininosuccinate synthase deficiency, argininosuccinate synthetase deficiency, argininosuccinic acid synthase deficiency, argininosuccinic acid synthetase deficiency, citrullinemia type 1
7 clinical trials for this condition and its sub-types, 4 tagged with Citrullinemia type I itself.
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Browse by category →Sub-types of Citrullinemia type I
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Acute neonatal citrullinemia type I 0 trials
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Adult-onset citrullinemia type I 0 trials
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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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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