Type VI - Marteaux-Lamy syndrome

It is the rarest type of mucopolysaccharidosis in Poland.

It is a progressive, multiorgan disorder inherited in the autosomal recessive manner.The defective gene is passed along to a child by a healthy mother and father.The defective gene causes that the child's body does not receive information concerning the enzyme structure. The chances of having an affected child are 25%. The chances that the siblings will also be affected are 2 in 3.

Mucopolysaccharidosis type VI is characterized mainly by skeletal malformations, heart or lung disease. Long-term effects of the disease may pose a hazard to life due to the damage to the spine and heart as well as respiratory issues.

The missing or deficient enzyme: N- acetylgalactosamine 4 sulfatase, which is active on catabolism of dermatan sulfate and chondroitin sulfate.


On 24 January 2006 The European Commission Naglazyme has received marketing authorization throughout the European Union. Since 24 November 2008 patients affected by Mucopolysaccharidosis type VI have had access to long-term replacement therapy with Naglazyme. One of the benefits of the treatment administration is the increase in the body efficiency.

© Przemysław Racinowski