Citrullinemia type I

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Citrullinemia type I

Synonyms: ASS deficiency | Argininosuccinate synthase deficiency | Argininosuccinate synthetase deficiency | Argininosuccinic acid synthase deficiency | Argininosuccinic acid synthetase deficiency | CTLN1 | Citrullinemia type 1 | Classic citrullinemia

Citrullinemia 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 see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I see this term).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Citrullinemia type I?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.