Neonatal presentation of adult-onset type II citrullinemia.
Hum Genet
; 108(2): 87-90, 2001 Feb.
Article
em En
| MEDLINE
| ID: mdl-11281457
ABSTRACT
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases. We described three infants who presented as neonates with intrahepatic cholestasis associated with hypermethioninemia or hypergalactosemia detected by neonatal mass screening. DNA analyses of SLC25A13 revealed that one patient was a compound heterozygote for the 851de14 and IVS11+IG-->A mutations and two patients (siblings) were homozygotes for the IVS11+lG-->A mutation. These results suggested that there may be a variety of liver diseases related to CTLN2 in children.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Citrulinemia
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Adult
/
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Japão