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