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

Farlex Partner Medical Dictionary © Farlex 2012

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).

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

arylsulfatase B deficiency

Mucopolysaccharidosis VI/ Maroteaux-Lamy disease, see there.

McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.