Glycogen Storage Diseases

This topic delves into a specific category of inherited metabolic disorders affecting glycogen metabolism, crucial for advanced clinical biochemistry students in Zambia. It covers the classification, pathophysiology, and clinical presentation of the major glycogen storage diseases (GSDs), including von Gierke's disease (Type I, glucose-6-phosphatase deficiency), Pompe's disease (Type II, lysosomal alpha-glucosidase deficiency), Cori disease (Type III), and McArdle's disease (Type V, muscle phosphorylase deficiency). Students will learn to associate specific enzyme defects with patterns of hypoglycaemia, lactic acidosis, hepatomegaly, and myopathy. Mastery of this topic is tested in tertiary-level examinations on metabolic diseases and is essential for professionals in metabolic medicine, paediatrics, and genetic counselling in Zambia, aiding in the diagnosis and management of these rare but important conditions.