arylsulfatase B deficiency
Ma·ro·teaux-·La·my syn·drome(mah-rō-tō' lah'mē), [MIM*253200]
an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after 2 years of age; autosomal recessive inheritance, caused by mutation in the arylsulfatase B gene (ARSB) on chromosome 5q.
Maroteaux-Lamy diseaseAn autosomal recessive condition (OMIM:253200) caused by arylsulfatase B deficiency.
Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly.
Bone transplant; enzyme replacement therapy with galsulfase (Naglazyme) improves growth and joint movement, but is extremely expensive ($350K/year).