title: Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.
abstract: 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 SLC25A 13 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.
authors: Department of Pediatrics, School of Medicine, University of Tokushima, Japan. enaito@clin.med.tokushima-u.ac.jp
authors: E
authors: E
authors: Naito
authors: M
authors: M
authors: Ito
authors: S
authors: S
authors: Matsuura
authors: Yokota
authors: T
authors: T
authors: Saijo
authors: Y
authors: Y
authors: Ogawa
authors: S
authors: S
authors: Kitamura
authors: K
authors: K
authors: Kobayashi
authors: T
authors: T
authors: Saheki
authors: Y
authors: Y
authors: Nishimura
authors: N
authors: N
authors: Sakura
authors: Y
authors: Y
authors: Kuroda
mesh_terms: D020159:Citrullinemia / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005690:Galactose / Q000097:blood; D005693:Galactosemias / Q000097:blood / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human; D005690:Galactose