Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children
- Author:
Ngu Lock Hock
;
Zabedah Md Yunus
;
Keiko Kobayashi
- Publication Type:Case Reports
- Keywords:
citrin defi ciency, neonatal intrahepatic cholestatis, SLC25A13 gene
- From:The Malaysian Journal of Pathology
2010;32(1):53-57
- CountryMalaysia
- Language:English
-
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.
- Full text:W020151209336428911405.pdf
