MeSH Browser

MeSH Supplementary: Neonatal-onset citrullinemia type 2
Unique ID: C536398
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536398
Entry Term(s): Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency; Citrullinemia, Type II, Neonatal-Onset; NICCD; Neonatal intrahepatic cholestasis caused by citrin deficiency; Neonatal-onset citrullinemia type II
Registry Number: 0
Heading Mapped to: *Citrullinemia
Frequency: 36
Note: An autosomal recessive metabolic disorder characterized by poor growth, INTRAHEPATIC CHOLESTASIS, and citrullinemia. Most patients show spontaneous improvement by 1 year of age; others may have a progressive course with continued failure to thrive and DYSLIPIDEMIA caused by citrin deficiency, and some may develop chronic or fatal LIVER DISEASE. Mutations in the SLC25A13 gene have been identified. OMIM: 605814
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Neonatal-onset citrullinemia type 2 MeSH Supplementary Concept Data 2023