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://www.orphadata.org. Data version April 2024
Newly diagnosed with
Citrullinemia type I?
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Advocacy Organizations
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
flok Health (formerly National PKU News)
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.