Neonatal-onset citrullinemia type 2 [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536398
Heading Mapped to:
Entry Terms:
- Neonatal-onset citrullinemia type II
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- NICCD
- Citrullinemia, Type II, Neonatal-Onset
- Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency