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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Ngu, Hock Lock Zabedah, Yunus Kobayashi, Keiko |
| Copyright Year | 2010 |
| Abstract | Citrin deficiency is an autosomal recessive disorder caused by mutation in the SLC25AJ3 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin deficiency (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 confirmed NICCD characterised by an insertion mutation IVS16ins3kb in SLC25A13 gene. All 3 patients presented with prolonged neonatal jaundice which resolved without specific 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. |
| File Format | PDF HTM / HTML |
| PubMed reference number | 20614727 |
| Journal | Medline |
| Volume Number | 32 |
| Issue Number | 1 |
| Alternate Webpage(s) | http://mjpath.org.my/2010.1/citrin_deficiency.pdf |
| Journal | The Malaysian journal of pathology |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
