{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:24:31Z","timestamp":1790803471143,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,12,16]],"date-time":"2010-12-16T00:00:00Z","timestamp":1292457600000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult\u2010onset type II citrullinaemia (CTLN2) and neonatal\/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the clinical features, biochemical findings and results of molecular analysis in 11 Malaysian children with NICCD. In this case series, all patients manifested prolonged cholestatic jaundice and elevated citrulline levels. The other more variable features included failure to thrive, bleeding diathesis, hypoproteinaemia, abnormal liver enzymes, prolonged coagulation profile, hyperammonaemia, hypergalactosaemia, multiple aminoacidaemia, elevated \u03b1\u2010feto protein and urinary orotic acid as well as liver biopsies showing hepatitis and steatosis. DNA analysis of SLC25A13 revealed combinations of 851del4(Ex9), IVS16ins3kb and 1638ins23. Most of our patients recovered completely by the age of 22 months. However, one patient had ongoing symptoms at the time of reporting and one had died of liver failure. Since a small percentage of children with NICCD will develop CTLN2 and the mechanisms leading to this is yet to be defined, ongoing health surveillance into adulthood is essential.<\/jats:p>","DOI":"10.1007\/s10545-010-9248-6","type":"journal-article","created":{"date-parts":[[2010,12,15]],"date-time":"2010-12-15T18:15:15Z","timestamp":1292436915000},"page":"489-495","source":"Crossref","is-referenced-by-count":19,"title":["Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients"],"prefix":"10.1002","volume":"33","author":[{"given":"Hui Bein","family":"Chew","sequence":"first","affiliation":[{"name":"Genetic and Metabolic Unit, Department of Paediatrics University Malaya Medical Centre Kuala Lumpur 50603 Malaysia"},{"name":"Department of Medical Genetics, Institute of Paediatrics Kuala Lumpur Hospital Jalan Pahang Kuala Lumpur 50586 Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lock Hock","family":"Ngu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Paediatrics Kuala Lumpur Hospital Jalan Pahang Kuala Lumpur 50586 Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Md Yunus","family":"Zabedah","sequence":"additional","affiliation":[{"name":"Biochemistry Unit, Specialised Diagnostic Centre Institute for Medical Research Kuala Lumpur 50586 Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wee Teik","family":"Keng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Paediatrics Kuala Lumpur Hospital Jalan Pahang Kuala Lumpur 50586 Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanti","family":"Balasubramaniam","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Paediatrics Kuala Lumpur Hospital Jalan Pahang Kuala Lumpur 50586 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