Von Gierke Disease
Introduction Von Gierke disease or Glycogen Storage Disease Type 1 (GSD-1) belongs to a group of rare metabolic disorders with a reported incidence of 1 case per 100,000 births per year. The clinical condition results from deficiency of key enzymes in the glycolytic pathway resulting in an increase in intermediate metabolites and accumulation of glycogen in the affected tissues. It is a genetic disorder with a natural history of severe developmental abnormalities and long term complications. This paper provides an overview of GSD-1 based on studies published in peer reviewed journals with a focus on its genetic determinants, clinical picture, available therapeutic ...
