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Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening
Author(s) -
Naito E.,
Ito M.,
Matsuura S.,
Yokota I.,
Saijo T.,
Ogawa Y.,
Kitamura S.,
Kobayashi K.,
Saheki T.,
Nishimura Y.,
Sakura N.,
Kuroda Y.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1015198103395
Subject(s) - citrullinemia , argininosuccinate synthase , neonatal hepatitis , newborn screening , mutation , abnormality , medicine , liver disease , biology , gene , pediatrics , genetics , urea cycle , liver transplantation , citrulline , amino acid , arginine , biliary atresia , psychiatry , transplantation
Type II citrullinaemia (CTLN2) is an adult‐ or late childhood‐onset liver disease characterized by a liver‐specific defect in argininosuccinate synthetase protein. The enzyme abnormality is caused by deficiency of the protein citrin, which is encoded by the SLC25A13 gene. Until now, however, few cases with SLC25A13 mutations have been reported in children with liver disease. We describe an infant who presented with neonatal hepatitis in association with hypergalactosaemia detected by neonatal mass screening. DNA analysis of SLC25A13 revealed that the patient was homozygous for a IVS11+1G>A mutation. This case suggests that SLC25A13 mutant should be suspected in neonatal patients with hypergalactosaemia of unknown cause.