Overview of the mucopolysaccharidoses
Open Access
- 1 December 2011
- journal article
- review article
- Published by Oxford University Press (OUP) in Rheumatology
- Vol. 50 (suppl 5), v4-v12
- https://doi.org/10.1093/rheumatology/ker394
Abstract
The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. The MPSs are heterogeneous, progressive disorders. Patients typically appear normal at birth, but during early childhood they experience the onset of clinical disease, including skeletal, joint, airway and cardiac involvement, hearing and vision impairment, and mental retardation in the severe forms of MPS I, MPS II and MPS VII and all subtypes of MPS III. There are two treatment options for patients with MPS that are directed at the underlying pathophysiology: haematopoietic stem cell transplantation, which is useful for selected patients, and recombinant i.v. enzyme replacement therapy, which is available for MPS I, II and VI. Early diagnosis and treatment can improve patient outcomes and may reduce the disease burden on patients and caregivers. As skeletal and joint abnormalities are characteristic of many patients with MPS, rheumatologists are positioned to recognize the features of the disease and to facilitate early diagnosis and referral. In this overview, the clinical features of the MPS disorders and a brief review of treatment options will be presented in order to aid the rheumatologist in recognizing the features of these rare genetic disorders.This publication has 59 references indexed in Scilit:
- A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritisJournal of Inherited Metabolic Disease, 2011
- Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type IIJournal of Inherited Metabolic Disease, 2010
- Mucopolysaccharidosis VIOrphanet Journal of Rare Diseases, 2010
- Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension studyThe Journal of Pediatrics, 2006
- Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disordersJournal of Inherited Metabolic Disease, 2006
- Mucopolysaccharidosis type II in females: Case report and review of literaturePediatric Neurology, 2005
- Heparan sulfate levels in mucopolysaccharidoses and mucolipidosesJournal of Inherited Metabolic Disease, 2004
- Keratan sulphate levels in mucopolysaccharidoses and mucolipidosesJournal of Inherited Metabolic Disease, 2004
- Mucopolysaccharidosis type IVA (morquio syndrome): A clinical reviewJournal of Inherited Metabolic Disease, 1995
- Prenatal diagnosis of Hurler disease by analysis of α‐iduronidase in chorionic villiJournal of Inherited Metabolic Disease, 1991