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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Citrullinemia type I?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.