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Mucopolysaccharidosis type IVA (MPS IVA)

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an ultra-rare inherited lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs).1

Signs and symptoms of Mucopolysaccharidosis type IVA (MPS IVA)

When GAGs build up in the bodies of people with Morquio A, the results can potentially be severe. People with Morquio A have physical problems and organ complications that can lead to difficulties performing daily activities, and reduced endurance may cause them to need walking aids or wheelchairs.1 The signs and symptoms of Morquio A are not usually easy to see at birth, however, by the time the child is 2 or 3 years old, enough GAGs have built up in the child’s body to start causing noticeable problems.3 The signs and symptoms of Morquio A can affect many different parts of the body and frequently include heart, lung, visual, hearing, and dental complications, in addition to the skeletal problems that are typically present in people with Morquio A syndrome.4

Skeletal symptoms1,2,4

  • Skeletal deformities
  • Short trunk
  • Weakness in the neck
  • Spinal cord compression
  • Knock knees
  • Abnormal walk
  • Scoliosis
  • Chest deformities

Non-skeletal symptoms1,2

  • Overly flexible joints
  • Heart valve problems
  • Muscle weakness
  • Eye problems
  • Hearing loss
  • Dental problems
  • Enlarged liver
  • Enlarged spleen
  • Limited endurance

References:

  1. Akyol MU et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis 2019;14:137.
  2. Lavery C and Hendriksz C. Mortality in patients with Morquio Syndrome A. JIMD Rep 2015;15:59-66.
  3. 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.
  4. Hendriksz CJ et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet 2015;167A(1):11-25.

Read more about MPS IVA on BioMarin.com

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