Mucopolysaccharidosis VI; Polydystrophic Dwarfism; Maroteaux-Lamy Syndrome

Mucopolysaccharidosis with excessive chondroitin SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of n-acetylgalactosamine-4-sulfatase (arylsulfatase B).

Diagnosis and therapies

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Symptoms and diagnosis

Symptoms:

Wikipedia

HYAL1Galactosamine-6 sulfataseArylsulfatase A

More information

Reported cases - Summary of cases reported on this disease WHO - World Health Organization PubMed - A service of the National Library of Medicine and National Institutes of Health MEDLINE - Literature from the National Library of Medicine MeSH - Medical Subject Headings DeCS - Health Sciences Descriptors

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