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

Type:Term

Definitions
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.

Synonyms
arylsulfatase B deficiency , mucopolysaccharidosis type VI

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