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Mucopolysaccharidosis VI (MPS VI)

Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy Syndrome, is an ultra-rare inherited lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B), an enzyme required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs).1

Signs and symptoms of Mucopolysacchiridosis VI (MPS VI)

Due to its rarity, and the varied and sometimes subtle nature of early signs and symptoms, early clinical recognition of MPS is challenging.1,2 Substantial diagnostic delays are common in MPS, with a typical delay in diagnosis from the onset of symptoms of around three years.2 The disease progresses over time, and depending on the degree of enzyme deficiency, patients can experience severe disabilities and possibly early death – factors underscoring the importance of early diagnosis.

Symptoms of MPS VI may include:3

  • Short stature
  • Coarse facial features
  • Stiff joints
  • Breathing problems
  • Difficulty walking/hip pain

References:

  1. Akyol MU et al. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis 2019;14:118.
  2. Clarke L et al. Understanding the early presentation of mucopolysaccharidoses disorders: Results of a systematic literature review and physician survey. J Inborn Errors Metab Screen 2018;6:1-12.
  3. Giugliani R et al. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007;120(2):405-18.

Read more about MPS VI on BioMarin.com

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