Debrancher deficiency: neuromuscular disorder in 5 adults.
Five patients, 4 men and 1 woman, had adult-onset and slowly progressive weakness. There was distal wasting in 2, hepatomegaly in 3, and congestive heart failure in 2. Electromyography showed a mixed pattern with abundant fibrillations. Serum creatine phosphokinase was increased 5- to 45-fold. Blood glucose failed to respond to epinephrine or glucagon, and venous lactate did not rise after ischemic exercise. Muscle biopsy showed vacuolar myopathy affecting both fiber types. By electron microscopy the vacuoles corresponded to large pools of glycogen not limited by a membrane. Glycogen concentration was 3 to 5 times normal in muscle and 7 to 21 times normal in erythrocytes. In the presence of iodine, muscle glycogen showed a spectrum characteristic of phosphorylase-limit-dextrin. Debrancher activity was measured by a spectrophotometric assay and by a radioactive reverse reaction. The activity was lacking in muscle and erythrocytes of 4 patients according to both assays; in 1 patient the reverse reaction was not impaired. Though previously reported in only 5 patients, debrancher deficiency myopathy may not be rare and should be considered in the differential diagnosis of adult-onset hereditary myopathies.
D000293:Adolescent; D000328:Adult; D005260:Female; D005964:Glucosyltransferases / Q000378:metabolism*; D006003:Glycogen / Q000378:metabolism; D006004:Glycogen Debranching Enzyme System / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D013577:Syndrome
D006004:Glycogen Debranching Enzyme System; D006003:Glycogen; D005964:Glucosyltransferases