Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation
Gut and Liver
;
: 60-63, 2009.
Artigo
em Inglês
| WPRIM
| ID: wpr-76628
ABSTRACT
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doadores de Tecidos
/
Doença de Depósito de Glicogênio
/
Doença de Depósito de Glicogênio Tipo IV
/
Transplante de Fígado
/
Doadores Vivos
/
Enzima Ramificadora de 1,4-alfa-Glucana
/
Glicogênio
/
Fígado
/
Cirrose Hepática
Limite:
Criança
/
Humanos
/
Lactente
Idioma:
Inglês
Revista:
Gut and Liver
Ano de publicação:
2009
Tipo de documento:
Artigo
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