Acid maltase deficiency in adults presenting as respiratory failure.
During the past nine years 10 patients with the adult form of acid maltase deficiency have been observed at the Mayo Clinic. Three of the adults presented with respiratory failure. In all three the respiratory manifestations dominated the clinical picture and the cause of the respiratory failure (muscle weakness) and the underlying myopathy (glycogen storage disease) were initially unsuspected. Careful evaluation of the respiratory function tests, including the maximal static respiratory pressures, electromyographic examination and histochemical and biochemical studies of muscle biopsy specimens eventually led to the correct diagnosis.
D000328:Adult; D004576:Electromyography; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005959:Glucosidases / Q000172:deficiency*; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000209:etiology
D006003:Glycogen; D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase