
COULD MPS BE HIDING IN YOUR PRACTICE?
Diverse presentations of MPS can complicate patient identification1-4
MUCOPOLYSACCHARIDOSIS (MPS) OVERVIEW
A heterogeneous group of rare inherited disorders with several subtypes: MPS I, II, III A-D, IV A/B, VI, VII, or IX.5
- MPS is caused by enzyme deficiencies. It is a multisystemic disorder and can have highly varied presentations, often complicating patient identification.1,2,4
- Enzyme deficiencies may put patients at risk for progressive organ damage1,2
- Patients with a nonclassical phenotype may lack the overt skeletal manifestations that would lead to suspicion of MPS3,4
- It is important to know all the signs and symptoms of MPS, especially when patients do not present with classic signs (eg, bone deformity, short stature, and genu valgum)3,4
Nonclassical musculoskeletal presentation can include3,4:
- Potential height of >140 cm
- Joint stiffness and/or pain as the primary signs/symptoms
- Lack of overt skeletal manifestations


Classical musculoskeletal presentation can include1-3,6:
- Height of <120 cm
- Overt spinal and skeletal abnormalities
- Joint laxity
- Genu valgum
- Abnormal gait
- Chest abnormalities
- Coarse facial features

MISSED DIAGNOSIS IS NOT UNCOMMON IN MPS
In a physician survey and systematic literature review, 44% (8/18) of patients with Morquio A had symptoms that raised concerns for or were misdiagnosed with spondyloepiphyseal dysplasia (SED) prior to testing for MPS.7
RECOGNIZE THE SIGNS
Morquio A is a multisystemic genetic disorder1

MPS-SPECIFIC SURGICAL PLANNING
~75% of patients <12 years of age (n=172) and >95% of patients ≥12 years of age (n=153) in a multinational MPS IVA study required surgical or medical interventions.9
Life-threatening potential surgical complications for patients with MPS may include14:
- Paralysis
- Heart failure
- Respiratory failure
High risk of anesthesia-related morbidity and mortality due to14:
- Cervical instability and myelopathy
- Cardiac abnormalities
- Compromised airways and respiratory function
Surgical complications may account for mortality in 1 out of 10 patients with Morquio A (MPS IVA)15

FACILITATE DIAGNOSIS WITH A BROAD EVALUATION OF SKELETAL DYSPLASIAS16-18
- Over 300 genes tested at no charge* for eligible patients18
- Covers many of the most common skeletal dysplasias, including MPS16,18
- Includes testing of genes for MPS I, II, III A-D, IV A/B, VI, and VII5
- Board-certified genetic counselors are available to assist ordering physicians in reviewing results or counseling patients and their families if requested
- Includes blood, saliva, and buccal swab sample collection options
- Follow-up single-enzyme testing available for results indicative of any MPS
- For eligible patients in the US and Canada. Please see DiscoverDysplasias.com for a full list of genes tested
UNCOVER RESOURCES THAT SUPPORT DIAGNOSIS AND CARE
Valuable information and tools are available to help from the start
BioMarin RareConnections™ provides a wide array of product support services to help patients and caregivers understand insurance access and coverage, provides information about financial assistance options, and coordinates delivery of BioMarin products for treatment.
Put patients on the path to disease-specific management sooner. Connect with BioMarin today for:
- Local resources
- One-on-one support throughout the diagnostic process
- Information about receiving Discover Dysplasias™ testing kits for your eligible patients
1. Akyol MU, Alden TD, Amartino H, et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):137. doi:10.1186/s13023-019-1074-9 2. Akyol MU, Alden TD, Amartino H, et al. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):118. doi:10.1186/s13023-019-1080-y 3. Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A:11-25. doi:10.1002/ajmg.a.36833 4. 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 5. Clarke L, Ellaway C, Foster HE, et al. Understanding the early presentation of mucopolysaccharidosis: results of a systematic literature review and physician survey. J Inborn Errors Metab Screen. 2018;6:1-12. doi:10.1177/2326409818800346 6. Tomatsu S, Montaño AM, Oikawa H, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12:931-945. 7. Clarke L, Cristian I, Pollard L, et al. Simply Test for MPS™ Enzyme-Panel Program: a testing resource for early and accurate diagnosis of mucopolysaccharidoses. Poster presented at: ACMG Annual Clinical Genetics Meeting; April 10-14, 2018; Charlotte, NC. 8. Leslie T, Siddiqui MA, Aitken DA, et al. Morquio syndrome: electron microscopic findings. Br J Ophthalmol. 2005;89:925-926. 9. 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;109:54-61. 10. Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36:309-322. 11. Mesolella M, Cimmino M, Cantone E, et al. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol Ital. 2013;33:267-272. 12. Lehman TJA, Miller N, Norquist B, et al. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v41-48. doi:10.1093/rheumatology/ker390 13. Kinirons MJ, Nelson J. Dental findings in mucopolysaccharidosis type IV A (Morquio’s disease type A). Oral Surg Oral Med Oral Pathol. 1990;70:176-179. doi:10.1016/0030-4220(90)90114-8 14. Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36:211-219. 15. Lavery C, Hendriksz C. Mortality in patients with Morquio syndrome A. JIMD Rep. 2015;15:59-66. doi:10.1007/8904_2014_298 16. Nikkel SM. Skeletal dysplasias: what every bone health clinician needs to know. Curr Osteoporos Rep. 2017;15(5):419-424. doi:10.1007/s11914-017-0392-x 17. Jelin AC, O’Hare E, Blakemore K, et al. Skeletal dysplasias: growing therapy for growing bones. Front Pharmacol. 2017;8(79):1-6. doi:10.3389/fphar.2017.00079 18. Krakow D. Skeletal dysplasias. Clin Perinatol. 2015;42(2):301-319. doi:10.1016/j.clp.2015.03.003