Glycogen storage disease in two sisters: A case report

Abstract

Key Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease.

Keywords

• glycogen storage disease
• hepatomegaly
• hypoglycemia
• metabolic