| Maroteaux-Lamy syndrome |
Another name for mucopolysaccharidosis VI (MPS VI). The term Maroteaux-Lamy syndrome comes from the names of the two French scientists who first discovered MPS VI in 1963.
Ãâó: www.maroteaux-lamy.com/pc/about/Glossary.asp
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| Maroteaux-Lamy s. |
a mucopolysaccharidosis caused by deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B), and characterized biochemically by the predominance of dermatan sulfate in the urine and the presence of coarse metachromatic granules in the leukocytes, and clinically by Hurler-like signs with normal intelligence. There are three clinical forms: the severe or classic form shows Hurler-like symptoms; the intermediate form has the same phenotype as mucolipidosis III (pseudo-Hurler polydystrophy); the mild form is difficult to distinguish from the Scheie syndrome. Called also mucopolysaccharidosis VI and arylsulfatase B (ARSB) deficiency.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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