Assays / Genetic Enzymes / Maroteaux-Lamy Disease (Mucopolysaccharidosis Type VI)

The classical phenotype is one of growth retardation, progressive skeletal deformities, coarse facies, severe corneal clouding, cardiac abnormalities and hepatosplenomegaly. In contrast to Hurler disease, intelligence is normal. Death often occurs before age 20 from heart failure. Much milder cases are known where the diagnosis is not made until age 10 years or over and where survival to beyond 60 years is possible. A very severe case presenting at one day of age with oedema of the hands and feet, respiratory distress and coarse, dysmorphic features has also been described.

Enzyme Tests: Arylsulphatase B is deficient in Maroteaux-Lamy disease.

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