Maroteaux-Lamy disease

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).

Maroteaux-Lamy disease

Mucopolysaccharidosis VI, arylsulfatase B deficiency Metabolic disease An AR condition caused by arylsulfatase deficiency Clinical Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly Management BM transplant. See Gargoyle.