Glycogen storage diseases (GSDs) are a group of metabolic disorders determined by the accumulation of glycogen in different tissues. GSDs are caused by the enzyme deficiencies effect on glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells. GSD are group of IEM characterized by accumulation of glycogen in various tissues. Accumulation is histological hallmark of these disorders although the phenotype shows various overlap. The disorders were numbered as they were discovered which classified chronologically by GSD type I (von Gierke disease) to GSD type XI. Hereby, we present a case report of a 2.5 years old male child with Type I Glycogen storage disease.
Keywords: Glycogen storage, metabolic disorder, G6PC gene.