Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life

Thong, M.K.; Boey, C.C.M.; Sheng, J.S.; Ushikai, M.; Kobayashi, K. (2010) Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. Singapore Medical Journal, 51 (1). E12-E14. ISSN 0037-5675

PDF - Published Version [error in script]
Download (201Kb) | Preview


    We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia. Urine metabolic screen showed the presence of urinary-reducing sugars, and she was treated with a lactose-free formula. NICCD was suspected based on the clinical history, examination and the presence of urinary citrulline. Mutation study of the SLC25A13 gene showed the compound heterozygotes, 851del4 and IVS16ins3kb, which confirmed the diagnosis of NICCD in the patient and her three-year-old female sibling, who also had unexplained neonatal cholestasis. Longterm dietary advice, medical surveillance and genetic counselling were provided to the family. The diagnosis of NICCD should be considered in infants with unexplained prolonged jaundice. DNA-based genetic testing of the SLC25A13 gene may be performed to confirm the diagnosis retrospectively. An awareness of this condition may help in early diagnosis using appropriate metabolic and biochemical investigations, thus avoiding invasive investigations in infants with neonatal cholestasis caused by NICCD.

    Item Type: Article
    1. Thong, M.K.
    2. Boey, C.C.M.(Department of Paediatrics, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
    3. Sheng, J.S.
    4. Ushikai, M.
    5. Kobayashi, K.
    Journal or Publication Title: Singapore Medical Journal
    Additional Information: Correspondence to: Dr Meow-Keong Thong Tel: (60) 3 7949 2065 Fax: (60) 3 7955 6114 Email:
    Uncontrolled Keywords: citrin deficiency, citrullinaemia type2, metabolic liver disease, molecular genetics,neonatal intrahepatic cholestasis, neonatal jaundice, prolonged jaundice
    Subjects: R Medicine
    Divisions: Faculty of Medicine
    Depositing User: Ms Haslinda Lahuddin
    Date Deposited: 11 Jun 2012 09:21
    Last Modified: 11 Jun 2012 09:21

    Actions (For repository staff only: Login required)

    View Item

    Document Downloads

    More statistics for this item...