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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
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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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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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