Glycogen Storage Disease Type IIIa Presenting with Hyperglycemia: A Novel Mutation

Glycogen, the storage form of glucose in cells; plays a vital role in cellular function by providing the energy required for most metabolic processes. Defects in glycogen metabolism cause an accumulation of glycogen in the tissues.The glycogen storage diseases were categorized numerically in the order in which the enyzmatic defects were identified. Glycogen storage disease type IIIa is an inherited glycogen storage disease that is an autosomal recessive transition affecting liver and muscles. It occurs as a result of mutation in the gene of glycogen debranching enzyme (AGL gene). Hypoglycemia is a common condition. In this case, we presented a case of glycogen storage disease type IIIa with a new mutation in the AGL gene presenting with hyperglycemia.