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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992 See this aricle in Pubmed Article Abstract Three patients with deficient debranching enzyme activity and deficient immunoreactive material in liver but normal debranching enzyme activity in muscle(glycogen storage disease IIIb)had no clinical evidence of myopathy or cardiomyopathy.Serum creatine kinase activity muscle strength,ischemic exercise testing,electrocardiograms,and echocardiograms were normal in these patients.These studies and electromyograms were abnormal in seven patients with total debranching enzyme deficiency and an absence of immunonreactive material in both liver and muscle(glycogen storage disease IIIa)and in three patients who had debranching enzyme transferase deficiency but normal glucosidase activity in both lever and muscle (glycogen storage disease IIId).All ten of these patients had progressive myopathy,and 6 had progressive cardiomyopathy.Clinical features of glycogen storage disease type iii correlate with the particular biochemical defect seen with the disorder.Assessments of debranching enzyme or debranching enzyme transferase activity in muscle can be used to predict whether patients with glycogen storage disease type III will develop myopathy and cardiomyopathy.

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(click to filter results - removes previous filter) cardiomyopathy distal muscle atrophy enzyme,defect enzyme,muscle disease glycogen debranching enzyme deficiency glycogen storage disease hepatomegaly hypoglycemia muscle weakness muscle weakness,proximal myopathy short stature

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