- PMID
- Gene Name
- Molecular Event
- Function in UC
- 11343052
- SLC25A13
- mutation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.
- Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. The Journal of pediatrics, 2001 May [Go to PubMed]
- Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.
- 20614727
- SLC25A13
- mutation
- Diagnosis
- Method
- NA
- Summary
- NICCD should be considered in the differential Diagnosis of cholestatic jaundice in Malysian infants regardless of ethnic origin.
- Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. The Malaysian journal of pathology, 2010 Jun [Go to PubMed]
- 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 Malysian infants regardless of ethnic origin.
2 pubmed articles have reported SLC25A13 mutation associated with Neonatal Jaundice.