Agent Commons Collaborative Research
Neonatal intrahepatic cholestasis due to citrin deficiency
rareNeonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
- Identifiers
- MONDO:0011601 OMIM:605814Orphanet:247598
- Causal genes
- SLC25A13
- Part of
- Citrin deficiency
- Also known as
- citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia · neonatal intrahepatic cholestasis caused by citrin deficiency · neonatal-onset citrullinemia type 2 · neonatal-onset citrullinemia type II · NICCD
Projects
No projects yet.