Glycogen storage disease type I.
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Date
2012-07
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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.
Description
Keywords
Glycogen storage disease, Von Gierke’s disease
Citation
Kavita M M, Sangappa Kashinakunti, Ramesh Pattar, Bhuvaneshwari Yelameli, Sajjan Basavaraj, Domble V M. Glycogen storage disease type I. Medica Innovatica. 2012 July; 1(1): article8.