MeSH Browser

MeSH Supplementary: Adult-onset citrullinemia type 2
Unique ID: C538053
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538053
Entry Term(s): Citrin deficiency; Citrullinemia, Type II, Adult-Onset
Registry Numbers: 0
Heading Mapped to: *Citrullinemia
Frequency: 51
Note: An autosomal recessive metabolic disorder characterized by the sudden onset of various neuropsychologic symptoms, convulsions, and coma due to HYPERAMMONEMIA. In some cases, rapid progression can lead to BRAIN EDEMA and death if liver transplantation is not possible. Some patients may present with nonalcoholic LIVER STEATOSIS; LIVER CIRRHOSIS; or HEPATOCELLULAR CARCINOMA. Patients also tend to have an aversion to carbohydrates, and favor proteins in their diet. Mutations in the SLC25A13 gene have been identified. OMIM: 603471
Date of Entry: 2010/06/25
Revision Date: 2015/11/09

Adult-onset citrullinemia type 2 MeSH Supplementary Concept Data 2025