Mucopolysaccharidoses (MPS) are lysosomal storage diseases. People with MPS lack enzymes that break down glycosaminoglycans (GAGs). Without these enzymes, certain GAGs accumulate in organ systems.
- Patients with MPS VI (also known as Maroteaux-Lamy syndrome) lack the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulphatase B, or ASB) resulting in an accumulation of dermatan sulphate (DS) in the soft and connective tissues.12
- Patients with Morquio A (also reerred to as MPS IVA) have a deficiency of N-acetylgalactosamine-6-sulphatase (GALNS), resulting in accumulation of keratan sulphate (KS) in connective tissue.13
The multi-systemic symptoms of MPS VI and Morquio A become evident as GAGs build up in the tissue,14 which may result in skeletal, cardiopulmonary, ocular, and auditory manifestations of the disease.
For more information about Morquio A for physicians, please visit www.MPSreference.eu
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