Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children
The Malaysian Journal of Pathology
;
: 53-57, 2010.
Artigo
em Inglês
| WPRIM
| ID: wpr-630290
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
The Malaysian Journal of Pathology
Ano de publicação:
2010
Tipo de documento:
Artigo
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