title: Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.
abstract: Lysosomal glycogen storage in muscle with normal acid maltase activity is a rare inherited condition characterized by cardiomyopathy, mental retardation and mild myopathy in males, but generally only cardiomyopathy in females. Three cases (index case, his sister and her son) are described in a family with at least two other affected members. The index case underwent a successful heart transplant. The sister has cardiac involvement, myopathic changes and mental impairment--to our knowledge the first report of multisystem involvement in a female. We propose that skeletal muscle should be examined in young patients with hypertrophic cardiomyopathy. Furthermore, female relatives of males with the disease should be investigated for cardiomyopathy; they would be excellent candidates for life-saving heart transplant, since myopathy and mental retardation, if clinically evident, are mild.
authors.affiliation: Division of Neuromuscular Disorders, Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Dworzak
authors.forename: F
authors.initials: F
authors.lastname: Casazza
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.forename: R
authors.initials: R
authors.lastname: De Maria
authors.forename: E
authors.initials: E
authors.lastname: Gronda
authors.forename: G
authors.initials: G
authors.lastname: Baroldi
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.forename: F
authors.initials: F
authors.lastname: Cornelio
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000201:enzymology / Q000473:pathology / Q000628:therapy; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000235:genetics / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000378:metabolism* / Q000628:therapy*; D016027:Heart Transplantation; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000201:enzymology / Q000378:metabolism* / Q000628:therapy*; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009206:Myocardium / Q000201:enzymology / Q000473:pathology; D010375:Pedigree
chemical_list: D005087:Glucan 1,4-alpha-Glucosidase