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Maroteaux-Lamy syndrome

Pronunciation: mah-ro-to' lah'me

Definition: 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

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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