MPS VI

Maroteaux-Lamy (MPS VI)

Maroteaux-Lamy disease also known as MPS VI, is a mucopolysaccharide disease generally diagnosed between 1 and 5 years of age.

MPS VI is an autosomal recessive disorder caused by a deficiency in the enzyme responsible for the breakdown of various glycosaminoglycans (GAGs). This is caused by a deficiency of the enzyme Arylsulfatase B (also known as N-acetylgalactosamine 4-sulfatase) encoded at chromosome 5q11-q13. There are currently over 1,000 patients diagnosed worldwide.

Some clinical features of MPSIV include short stature, macrocephaly (large head), hydrocephalus, corneal clouding, spinal cord compression, carpal tunnel syndrome, hearing loss, sleep apnea, airway obstruction, hernias, ear infections, dysostosis mutiplex (bone deformities), and joint dysfunction.

Currently, treatment includes symptom management, enzyme replacement therapy with NaglazymeŽ (galsulfase) and bone marrow transplant.