Glycogen storage disease type I.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Humains
/
Glycogénose de type I
/
Glucosephosphatase
/
Hyperuricémie
/
Hyperlipidémies
/
Hypoglycémie
langue:
Anglais
Année:
2012
Type:
Article
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