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. Synonym(s): arylsulfatase B deficiency, mucopolysaccharidosis type VI

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).

arylsulfatase B deficiency

Mucopolysaccharidosis VI/ Maroteaux-Lamy disease, see there.

单词	arylsulfatase b deficiency
释义	arylsulfatase B deficiency Ma·ro·teaux-·La·my syn·drome (mah-rō-tō' lah'mē), [MIM253200] 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. Synonym(s): arylsulfatase B deficiency, mucopolysaccharidosis type VI 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). arylsulfatase B deficiency Mucopolysaccharidosis VI/ Maroteaux-Lamy disease, see there.
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