Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants
Journal of Korean Medical Science
; : 952-956, 2007.
Article
em En
| WPRIM
| ID: wpr-92080
Biblioteca responsável:
WPRO
ABSTRACT
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal cholestasis, three infants had multiple aminoacidemia (involving citrulline, methionine, and arginine) and galactosemia, and thus were diagnosed as having NICCD. Two of these three showed failure to thrive. The laboratory findings showed hypoproteinemia and hyperammonemia, and liver biopsies revealed micro-macrovesicular fatty liver and cholestasis. The three patients each harbored compound heterozygous 1,638-1,660 dup/ S225X mutation, compound heterozygous 851del4/S225X mutation, and heterozygous 1,638-1,660 dup mutation, respectively. With nutritional manipulation, liver functions were normalized and catch-up growth was achieved. NICCD should be considered in the differential diagnosis of cholestatic jaundice in Korean infants.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Proteínas de Membrana Transportadoras
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Proteínas de Ligação ao Cálcio
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Colestase Intra-Hepática
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Citrulinemia
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Transportadores de Ânions Orgânicos
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Proteínas Mitocondriais
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Aminoácidos
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Mutação
Limite:
Humans
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Infant
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
2007
Tipo de documento:
Article