Glycogen Storage Diseases: A Metabolic Disease Presenting With Non-metabolic Complications

Abstract

Background: Glycogen storage diseases (GSDs) are metabolic liver disorders affecting glycogen metabolism. GSDs represent the enzymatic defects in glycogen metabolic pathway predominantly affecting liver, muscle and heart. Individuals with GSD usually presents with characteristic doll-like facies, hepatomegaly, hypoglycemia, hyperlipidemia and growth retardation. However, they may also presents with predominant non-metabolic complications like recurrent infection with or without enterocolitis due to neutropenia and neutrophil dysfunction in GSD Ib and hypophosphatemic rickets due to proximal renal dysfunction in GSD XI. Here we report these two rare GSD cases, who presented with non-metabolic complications. Case Summary: Case 1 presenting with frequent pneumonia, severe anemia and fistula in ano and case 2 presenting with hypertension and hypophosphatemic rickets were diagnosed as GSD type Ib and GSD type XI/Fanconi-Bickel syndrome respectively on the basis of massive hepatomegaly, deranged metabolic profile and liver biopsy. Frequent pneumonia in GSD Ib and hypertension in GSD XI could be explained by neutropenia related immune dysfunction and activated renin–angiotensin system respectively. Such an atypical presentations of these two rare GSDs has not been reported in literature to the best of our knowledge. In conclusion, GSDs may present with vast spectrum of manifestations including metabolic as well as non-metabolic complications. Conclusion: High index of suspicion, early detection and screening, simple dietary modification along with adjunctive pharmacotherapy are required to treat most of these complications. GSD XI/FBS cases should be studied from an early age for evidence of renal glomerular disease. The authors have none to declare.