Search
neonatal intrahepatic cholestasis due to citrin deficiency (NICCD)
A form of citrullinemia type 2 with neonatal onset.
Pathology:
- suppression of the bile flow
- hepatic fibrosis
Genetics:
- associated with defects in SLC25A13
Clinical manifestations:
- low birth weight
- growth retardation
- generally not severe & symptoms disappear by one year of age with an appropriate diet
Laboratory:
- serum protein: hypoproteinemia
- liver function tests: variable liver dysfunction
Complications:
- years or even decades later, some patients develop characteristic features of hyperammonemia
Management:
- nutritional consult
- protein restriction
General
citrullinemia type 2
neonatal disorder or disease
Database Correlations
OMIM 605814
References
OMIM :accession 605814