This website is intended for Healthcare Professionals practicing in Europe, Canada, Australia and New Zealand. Developed and funded by BioMarin.

Recognise the signs, identify the disease

“MPSs are multisystemic, progressive, treatable diseases, so diagnosis should be made as early as possible.”

Dr. Mireia del Toro

what is mps

Early recognition hinges on early suspicion

In many genetic conditions, diagnostic delay is common due to lack of clinical suspicion.

What is MPS?

signs symptoms promo

Discover the signs and symptoms of MPS

Presentation and disease progression are unpredictable, multisystemic and variable across and within MPS disorders, making diagnosis challenging.1

Take a closer look at the signs and symptoms

Discover the pathology behind the presentation

Watch how MPS affects patients from the inside out. As an example, this video illustrates the mechanism of disease for Morquio A (MPS IVA).

Learn more

Register for access

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Is there a rare genetic disease hiding in your department?

Often mischaracterised as either purely a childhood disorder or a musculoskeletal disease, MPS might not be as uncommon as you think.

Consider MPS

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.1-5 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.1,2,3,6,7

Manage your patients with MPS

managing mps


  1. Lehman TJA et al. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v41–v48
  2. 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.
  3. Muenzer J, Beck M, Eng CM, et al.Genet Med. 2011;13(2):95–101. doi:10.1097/GIM.0b013e3181fea459.
  4. 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.
  5. 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.
  6. 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.
  7. Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v19–v25. doi:10.1093/rheumatology/ker397.