EURORDIS

   

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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.

Treatment:

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