MPS VI

MPS VI

n. See Maroteaux-Lamy syndrome.

Maroteaux-Lamy disease

An autosomal recessive condition (OMIM:253200) caused by arylsulfatase B deficiency.
Clinical findings
Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly.
 
Management
Bone transplant; enzyme replacement therapy with galsulfase (Naglazyme) improves growth and joint movement, but is extremely expensive ($350K/year).