title: Adult form acid maltase deficiency -- a case report.
abstract: The case of a 26 year old man with acute respiratory difficulty was reported. Morphological and biochemical analysis of biopsied gastrocnemius muscle indicated a diagnosis of adult form acid maltase deficiency. Clinically, the most interesting point of our case was the presence of a thickening of the posterior papillary muscles and chordae without any functional disturbance, which was detected by echocardiogram. Another interesting point of our case was the existence of a sibling who died of progressive muscular dystrophy at the age of 31 years. This may raise the possibility that we are dealing with a familial type of adult form acid maltase deficiency.
mesh_terms: D000328:Adult; D002815:Chordae Tendineae / Q000473:pathology; D004452:Echocardiography; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005959:Glucosidases / Q000172:deficiency*; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000235:genetics / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D010210:Papillary Muscles / Q000473:pathology; D000520:alpha-Glucosidases
chemical_list: D006003:Glycogen; D005959:Glucosidases; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase