What are the Clinical Implications of Debranching Enzyme Deficiency?
Deficiency in the debranching enzyme leads to the accumulation of abnormally structured glycogen, resulting in glycogen storage diseases. Type III Glycogen Storage Disease, also known as Cori or Forbes disease, is characterized by hepatomegaly, muscle weakness, and hypoglycemia due to the impaired breakdown of glycogen. Histological examination of liver and muscle biopsies in affected individuals often reveals increased glycogen deposits and abnormal glycogen structure, highlighting the importance of the debranching enzyme in glycogen metabolism.
