Mucopolysaccharidosis type II: skeletal-muscle system involvement.
Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate. Lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. The skeletal-muscle system involvement is because of essential accumulated GAGs in joints and connective tissue. MPS-II has many clinical features and includes two recognized clinical entities, mild and severe, that represent two ends of a wide spectrum of clinical severity. The aim of this study is to review the involvement of the skeletal-muscle system in MPS-II.
Morini
Sandra Regina
SR
Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, São Paulo, Brazil. sandramorini@yahoo.com.br
Steiner
Carlos Eduardo
CE
Gerson
Lelia Britto Passos
LB
D004413:Dysostoses / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007066:Iduronate Sulfatase / Q000378:metabolism; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000175:diagnosis* / Q000652:urine; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D011859:Radiography
D006025:Glycosaminoglycans; D007066:Iduronate Sulfatase