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- Title
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
- Authors
Ngu Lock Hock; Yunus, Zabedah Md; Kobayashi, Keiko
- Abstract
Citrin defi ciency is an autosomal recessive disorder caused by mutation in the SLC25A13 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin defi ciency (NICCD). NICCD is characterized by neonatal/infantile-onset cholestatic hepatitis syndrome associated with multiple amino acidemia and hypergalactosemia. NICCD is self-limiting in most patients. However, some patients may develop CTLN2 years later, which manifests as fatal hyperammonemia coma. We report three unrelated Malay children with genetically confi rmed NICCD characterised by an insertion mutation IVS16ins3kb in SLC25A13 gene. All 3 patients presented with prolonged neonatal jaundice which resolved without specifi c treatment between 5 to 10 months. Of note was the manifestation of a peculiar dislike of sweet foods and drinks. Elevated plasma citrulline was an important biochemical marker. NICCD should be considered in the differential diagnosis of cholestatic jaundice in Malaysian infants regardless of ethnic origin.
- Subjects
POLYCYSTIC kidney disease; GENETIC load; NEONATAL jaundice; ORNITHINE carbamoyltransferase deficiency; MALAYS (Asian people); INFANT diseases
- Publication
Malaysian Journal of Pathology, 2010, Vol 32, Issue 1, p53
- ISSN
0126-8635
- Publication type
Case Study