arylsulfatase B deficiency


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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 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.

arylsulfatase

a group of enzymes active in the hydrolysis of sulfates and the metabolism of mucopolysaccharides; found in liver, pancreas, kidneys and immature monocytes. Several species of molluscs and Aerobacter spp. serve as commercial sources of the enzyme which is used in analytic endocrinology.

arylsulfatase A deficiency
see metachromatic leukodystrophy.
arylsulfatase B deficiency
is the cause of mucopolysaccharidosis VI which occurs in humans and cats. Called also Maroteaux-Lamy syndrome.