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Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S489-95. Date of Electronic Publication: 2010 Dec 16. - Publication Year :
- 2010
-
Abstract
- Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset 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 α-feto 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.
- Subjects :
- Asian People genetics
Biomarkers blood
Citrulline blood
DNA Mutational Analysis
Exons
Fatal Outcome
Female
Genetic Predisposition to Disease
Heredity
Humans
Infant
Infant, Newborn
Jaundice, Obstructive etiology
Liver Failure etiology
Malaysia epidemiology
Male
Mitochondrial Membrane Transport Proteins genetics
Mitochondrial Membrane Transport Proteins metabolism
Mutation
Pedigree
Phenotype
Prognosis
Time Factors
Citrullinemia complications
Citrullinemia diagnosis
Citrullinemia ethnology
Citrullinemia genetics
Citrullinemia metabolism
Citrullinemia therapy
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2665
- Volume :
- 33 Suppl 3
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 21161389
- Full Text :
- https://doi.org/10.1007/s10545-010-9248-6