Glycogen storage disease type I.
Artigo
em Inglês
| IMSEAR
| ID: sea-143636
ABSTRACT
Glycogen storage diseases (GSD) are inherited autosomal recessive disorder.Type-IGSD(Von Gierkes disease) is due to glucose- 6-phosphatase defect, which mainly affects liver and is life threatening if not treated. The main features are fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Here we present a case of six month female baby who presented with fever, abdominal distension and on investigation biochemical parameters were suggestive of type-I GSD.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Doença de Depósito de Glicogênio Tipo I
/
Glucose-6-Fosfatase
/
Hiperuricemia
/
Hiperlipidemias
/
Hipoglicemia
Idioma:
Inglês
Ano de publicação:
2012
Tipo de documento:
Artigo
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