title: [Mucopolysaccharidoses].
abstract: Mucopolysaccharidoses are a family of metabolic disorders characterized by a deficiency in the catabolic lysosomal pathways. They are rare, inherited diseases which lead to progressive cellular, tissue and organ damage across a broad spectrum of phenotypes. To prevent irreversible damage early diagnosis is essential. Typical signs and symptoms are the thoracolumbar gibbus, shortened and plumped metacarpal bones, hip dysplasia, deformed ribs and ovoid vertebral bodies. Due to the typical deformation of the pelvis hip dislocation occurs often in childhood. Bilateral carpal tunnel syndrome is frequent. Bone marrow transplantation and enzyme replacement therapy are available. Orthopaedic interventions are based on individual therapeutic decisions and indications.
authors.affiliation: Villa metabolica, Klinikum der Johannes-Gutenberg-Universität, Langenbeckstrasse 2, 55131 Mainz, Deutschland. Bianca.Link@t-online.de
authors.forename: B
authors.initials: B
authors.lastname: Link
authors.forename: E
authors.initials: E
authors.lastname: Miebach
authors.forename: T
authors.initials: T
authors.lastname: Vetter
authors.forename: D
authors.initials: D
authors.lastname: Schmitt
authors.forename: M
authors.initials: M
authors.lastname: Beck
authors.forename: A
authors.initials: A
authors.lastname: Meurer
mesh_terms: D000293:Adolescent; D000328:Adult; D019644:Arthroplasty, Replacement, Hip; D016026:Bone Marrow Transplantation; D002349:Carpal Tunnel Syndrome / Q000209:etiology* / Q000601:surgery / Q000628:therapy; D002648:Child; D006617:Hip Dislocation / Q000000981:diagnostic imaging / Q000209:etiology* / Q000601:surgery; D006801:Humans; D007738:Kyphosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D009083:Mucopolysaccharidoses / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000601:surgery; D019637:Orthopedic Procedures; D010641:Phenotype; D011859:Radiography; D013997:Time Factors