MPS Reference
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“MPS are multisystemic, progressive, treatable diseases, so diagnosis should be made the earliest as possible.” – Dr. Mireia del Toro

Learn more about MPS

Recognise the signs, identify the disease

Mucopolysaccharidosis (MPS) disorders are a group of progressive, genetically inherited, serious disorders that affect multiple body systems and functions as a result of heterogeneously expressed enzyme deficiencies.1-3 Variability in presentation and disease progression – as well as perceived disease rarity in broad clinical practice – result in an under-recognition of MPS in speciality departments, leading to delayed diagnosis and potentially devastating consequences.4,5

Optimise long-term patient outcomes and help initiate early treatment by recognising the signs of MPS and referring suspected patients to a geneticist or metabolic centre immediately. Referral to a metabolic centre is a critical first step in the differential diagnosis and early initiation of treatment.4

Learn how to rule out MPS
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Optimise outcomes – change the clinical course for your patients

MPS disorders are complex, multisystemic conditions whose unique risks and life–altering complications require careful, coordinated care from a multidisciplinary team of specialists.4,6-9 The emergence of specific therapies for some MPS disorders has elevated the critical nature of early intervention and diagnosis as key components of optimal, long-term outcomes.4,6,7,10,11

Manage your patients with MPS

Early investigation leads to early intervention.
Avoid delay.

Refer patients to your local metabolic centre

Stay informed about the latest updates and information about MPS.

References:  1. Clarke LA, Winchester B, Giugliani R, Tylki-Szymańska A, Amartino H. Biomarkers for the mucopolysaccharidoses: discovery and clinical utility. Mol Genet Metab. 2012;106(4):396–402. doi:10.1016/j.ymgme.2012.05.003.  2. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004;144(suppl 5):S27-S34.  3. Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014;111(2):63-72. doi:10.1016/j.ymgme.2013.11.015.  4. Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v41–v48.  5. Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med. 2011;72(2):91–95.  6. Muenzer J, Wraith JE, Clarke LA, International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19–29. doi:10.1542/peds.2008-0416.  7. Muenzer J, Beck M, Eng CM, et al.Genet Med. 2011;13(2):95–101. doi:10.1097/GIM.0b013e3181fea459.  8. Klitzner TS, Rabbitt LA, Chang RKR. Benefits of care coordination for children with complex disease: a pilot medical home project in a resident teaching clinic. J Pediatr. 2010;156(6):1006–1010. doi:10.1016/j.jpeds.2009.12.012.  9. Mosquera RA, Avritscher EBC, Samuels CL, et al. Effect of an enhanced medical home on serious illness and cost of care among high-risk children with chronic illness: a randomized clinical trial. JAMA. 2014;312(24):2640–2648. doi:10.1001/jama.2014.16419.  10. Clarke LA. Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator. Rheumatology (Oxford). 2011;50(suppl 5):v13–18. doi:10.1093/rheumatology/ker395.  11. Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v19–v25. doi:10.1093/rheumatology/ker397.