About MPS.

About MPS.


Mucopolysaccharidosis (MPS) is caused by the inherited deficiency of an enzyme involved in the degradation of MPSs, now called glycosaminoglycans (GAGs).1,2 There are several types of MPS (I - IX).4,5 The different types of MPS have varying clinical presentations, depending on the type of enzyme defect and the glycoprotein accumulated.3,4 This course will go in-depth on each type of MPS.

Each MPS type comes with its own diagnosis and symptoms.4,5 These symptoms must be analysed before a specific treatment can be determined for the patient.4,6 However, these disorders are generally under-diagnosed or mis-diagnosed,5 making it difficult to determine their true frequency in the general population.7



occurs in approximately
Baby icon.


although the incidence and prevalence varies between different populations.8


1. Giugliani R, Villarreal ML, Valdez CA, et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37:315-29.

2. National Institutes of Health. Mucopolysaccharidoses Fact Sheet. Available at https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet. Accessed on 1 July 2020.

3. Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167:267-77.

4. Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. Inborn metabolic diseases: diagnosis and treatment, 5th ed. New York, NY: Springer; 2012: p. 495-507.

5. Lampe C, Bellettato CM, Karabul N, et al. Mucopolysaccharidoses and other lysosomal storage diseases. Rheum Dis Clin North Am. 2013;39:431-55.

6. Scarpa M, Almassy Z, Beck M. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:72.

7. Meikle PJ. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249–54.

8. Khan SA, Peracha H, Ballhausen D. Molecular genetics and metabolism. Mol Genet Metab. 2017; 121(3): 227–40.