A case of glycogen storage disease type Ia performed molecular genetic analysis / 대한내과학회지
Korean Journal of Medicine
;
: 91-96, 2006.
Artigo
em Coreano
| WPRIM
| ID: wpr-104192
ABSTRACT
Glycogen storage disease type Ia is caused by a deficiency of glucose-6-phosphatase (G6PC), which leads to glycogen accumulation in many organs including liver. We could diagnose a case of glycogen storage disease type Ia with molecular genetic analysis. A 17-year-old man visited Yeungnam university hospital because of abdominal discomfort. Clinical features were characterized by short stature, hepatosplenomegaly, accompanying hypoglycemia, hypercholesterolemia, hyperuricemia. Liver needle biopsy disclosed compatible findings of glycogen storage disease. Molecular genetic analysis of the G6PC gene was performed by direct sequencing method. We identified two mutations within the exon 5 of the G6PC gene, 727G>T and 743G>A. We report this rare case with a review of the literature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Biópsia por Agulha
/
Doença de Depósito de Glicogênio
/
Éxons
/
Glucose-6-Fosfatase
/
Hiperuricemia
/
Glicogênio
/
Hipercolesterolemia
/
Hipoglicemia
/
Fígado
/
Biologia Molecular
Limite:
Adolescente
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Ano de publicação:
2006
Tipo de documento:
Artigo
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