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

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


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.

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.