glycogen storage disease III

glycogen storage disease III

Amylo-1,6-glucosidase deficiency, Cori disease, debrancher deficiency, debrancher disease, Forbes disease, glycogen debrancher deficiency, limit dextrinosis Metabolic disease An AR disorder of adult onset primarily affecting Jews of north African descent caused by a defect of amylo-1,6-glucosidase or debrancher enzyme, which removes side chains from stored glycogen, resulting in an inability to degrade glycogen closer than 4 units beyond a branch point; such 'closely-shaved' glycogen is known as limit dextrin Clinical Massive hepatomegaly and biventricular cardiac hypertrophy, slowly progressive weakness, muscle wasting, protuberant abdomen, hypoglycemia in childhood, hypoglycemic response to epinephrine and glucagon EMG Myopathic changes, abnormal electrical irritation Lab Hypoglycemia, ↑ ALT, AST, LDH, alk phos activity until puberty at which time hepatomegaly may regress