Maroteaux-Lamy syndrome[mah-rō-tō′ lah′mē]


1. 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.

arylsulfatase B deficiency , mucopolysaccharidosis type VI

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