Kavita, M MSangappa, KashinakuntiRamesh, PattarBhuvaneshwari, YelameliSajjan, BasavarajDomble, V M2012-12-062012-12-062012-07Kavita 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.http://imsear.searo.who.int/handle/123456789/143636Glycogen 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.enGlycogen storage diseaseVon Gierke’s diseaseGlucose-6-PhosphataseGlycogen Storage Disease Type I --diagnosisHumansHypoglycemia --etiologyHyperlipidemias --etiologyHyperuricemia --etiologyArticle