title: Mucopolysaccharidoses and other lysosomal storage diseases.
abstract: Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes. Patients are affected by a wide variety of symptoms. For some lysosomal storage diseases, effective treatments to arrest disease progression, or slow the pathologic process, and increase patient life expectancy are available or being developed. Timely diagnosis is crucial. Rheumatologists, orthopedics, and neurologists are commonly consulted due to unspecific musculoskeletal signs and symptoms. Pain, stiffness, contractures of joints in absence of clinical signs of inflammation, bone pain or abnormalities, osteopenia, osteonecrosis, secondary osteoarthritis or hip dysplasia are the alerting symptoms that should induce suspicion of a lysosomal storage disease.
authors.affiliation: Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg, University of Mainz, Langenbeckstrasse 2, Mainz 55131, Germany. christina.lampe@unimedizin-mainz.de
authors.forename: Christina
authors.initials: C
authors.lastname: Lampe
authors.forename: Cinzia Maria
authors.initials: CM
authors.lastname: Bellettato
authors.forename: Nesrin
authors.initials: N
authors.lastname: Karabul
authors.forename: Maurizio
authors.initials: M
authors.lastname: Scarpa
mesh_terms: D001851:Bone Diseases, Metabolic / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D042241:Early Diagnosis; D006616:Hip Contracture / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D006618:Hip Dislocation, Congenital; D006621:Hip Joint / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007592:Joint Diseases / Q000151:congenital / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D007596:Joints / Q000473:pathology / Q000503:physiopathology; D008247:Lysosomes / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology* / Q000503:physiopathology; D009140:Musculoskeletal Diseases / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology / Q000503:physiopathology; D010009:Osteochondrodysplasias / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D010020:Osteonecrosis / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D010146:Pain / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D011379:Prognosis