284 champions drew their mascots. During almost 2 months voting, there were 18,964 votes for choosing those who received the most number of hearts.


Our congratulations for all mascots!

Real champions drew them!

and the WINNERS mascots are...



The symptoms vary according to the patient age, with the type of mucopolysaccharidosis and also with the disease severity on each patient.

Only a doctor specialized in metabolism can confirm whether the patient actually suffers from mucopolisacaridosis.

For this, he/she makes a blood test which finds where there is lack or reduction of enzymes.

  • Some symptoms are:

    • Macrocephaly (head larger than the standard)
    • Hydrocephaly
    • Intellectual Disability
    • Face changes
    • Increase in the tongue size (macroglossia)
    • Visual impairment
    • Hearing impairment

See more symptoms



The Mucopolysaccharidoses (MPS) are  inherited disorders, caused by the lack of given enzymes in the cells. When these enzymes are lacking, the cells do not work properly, causing problems in many organs of the human body. The MPS are part of a group called Lysosomal Storage Disease and they are of many types, according to the enzyme which is lacking


The problem is generated inside the patient cells. More exactly, within the lysosomes, which are part of the cell responsible for the cellular digestion. In a normal body, the substances which come to the lysosomes are digested and they return to the remaining portion of the body. In MPS, some of the 300 enzymes which are necessary for this process are lacking. Thus, the substances start accumulating inside the cells, which become bigger than the normal, causing what the doctors call as "lysosomal storage disease". The result is also the increase of organs such as liver and spleen and in tissues like the skin, causing many symptoms.

This year, many patients drew their #Champion'sMascot in the Drawing Workshop #MPSDAY which took place all over Latin America.



But... our champions did not imagine that their mascots would become real stuffed animals!




Mucopolysaccharidosis treatment is complex and involves many health professionals, according to each one of the symptoms presented. In general, the patient is followed by a doctor specialized

in metabolism, besides the paediatrician, the pneumatologist, otolaryngologist, ophthalmologist, orthopedist, neurologist, physiotherapist, dentist, phonoaudiologist and psychologist.

It is recommendable that the patient is followed by an assistance center on genetic disorders, which provides better treatment.



contador de visitas

Thank you for being the visitor


*References: 1. Kakkis ED, Neufeld EF. The mucopolysaccharidoses. In: Berg BO, ed. Principles of child neurology. New York, NY: McGraw-Hill; 1996:1141-1166. 2. Coman DJ, Hayes IM, Collins V, Sahhar M, Wraith JE, Delatycki MB. Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians. JIMD Rep. 2011;1:9-15. doi:10.1007/8904_2011_9. 3. Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v41-v48. 4. Jurecka A, Zakharova E, Malinova V, Voskoboeva E, Tylki-Szymańska A. Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. Clin Rheumatol. 2014;33(5):725-731. doi:10.1007/s10067-013-2423-z. 5. Muenzer J, Beck M, Eng CM, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011;13(2):95-101. doi:10.1097/GIM.0b013e3181fea459. 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. 8. Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med. 2011;72(2):91-95. 9. Wood TC, Harvey K, Beck M, et al. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013;36(2):293-307. doi:10.1007/s10545-013-9587-1. 10. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004;144(suppl 5):S27- S34. 11. Thümler A, Miebach E, Lampe C, et al. Clinical characteristics of adults with slowly. progressing mucopolysaccharidosis VI: a case series. J Inherit Metab Dis. 2012;35(6):1071-1079. doi:10.1007/s10545- 012-9474-1. 12. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5. doi:10.1186/1750-1172-5-5. 13. Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30(2):165-174. doi:10.1007/s10545-007-0529-7. 14. Lachman RS, Burton BK, Clarke LA, et al. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol. 2014;43(3):359-369. doi:10.1007/s00256-013-1797-y. 15. Kinirons MJ, Nelson J. Dental findings in mucopolysaccharidosis type IV A (Morquio’s disease type A). Oral Surg Oral Med Oral Pathol. 1990;70(2):176-179. 16.Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet Part A. 2014;9999A:1-15. doi:10.1002/ajmg.a.36833. 17. Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL.Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(2):109-118. doi:10.3233/PRM-2010-0115. 18. Cimaz R, Coppa GV, Koné-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis [hypothesis]. Pediatr Rheumatol Online J. 2009;7:18. doi:10.1186/1546-0096-7-18. 19. Fahnehjelm KT, Ashworth JL, Pitz S, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol. 2012;90(7):595-602. doi:10.1111/j.1755-3768.2011.02280.x. 20. Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 2013;34(1):5-13. doi:10.3174/ajnr.A2832. 21. Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-1197. doi:10.1007/s10545-011-9359-8. 22. Braunlin E, Orchard PJ, Whitley CB, Schroeder L, Reed RC, Manivel JC. Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review. Cardiovasc Pathol. 2014;23(3):145-151. doi:10.1016/j.carpath.2014.01.001. 23. Mesolella M, Cimmino M, Cantone E,et al. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol Ital. 2013;33(4):267-272. 24. Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201- 210. doi:10.1007/s10545-012-9555-1. 25. Martins AM, Dualibi AP, Norato D, et al. Guidelines for the management of mucopolysaccharidosis type I. J Pediatr. 2009;155(4)(suppl 2):S32-S46. doi:10.1016/j.jpeds.2009.07.005. 26. 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. 27. Harmatz P, Mengel KE, Giugliani R, et al. The Morquio A clinical assessment program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54-61. doi:10.1016/j.ymgme.2013.01.021. 28. Dhawale AA, Church C, Henley J, et al. Gait pattern and lower extremity alignment in children with Morquio syndrome. J Pediatr Orthop B. 2013;22(1):59-62. doi:10.1097/BPB.0b013e32835a0e6d. 29. 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. 30. Bhattacharya K, Balasubramaniam S, Choy YS, et al. Overcoming the barriers to diagnosis of Morquio A syndrome. Orphanet J Rare Dis. 2014;9:192. doi:10.1186/s13023-014-0192-7. 31. Choy YS, Bhattacharya K, Balasubramaniam S, et al. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). Mol Genet Metab. 2015;115(1):41-47. doi:10.1016/j.ymgme.2015.03.005. 32. Data on file. Biomarin Pharmaceutical, Inc. 33. Drummond JC, Krane EJ, Tomatsu S, Theroux MC, Lee RR. Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis. Can J Anesth. 2015;62(1):45-49. doi:10.1007/s12630-014-0247-1. 34. Sharkia R, Mahajnah M, Zalan A, Sourlis C, Bauer P, Schöls L. Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. J Med Case

Rep. 2014;8:78. doi:10.1186/1752-1947-8-78.


MPSDAY | Images used with permission