People with two working copies of the gene are unaffected. People with one working copy are genetic carriers of Maroteaux-Lamy Syndrome. They have no symptoms but may pass down the defective gene to their children. People with two defective copies will have MPS-VI. Diagnosis
A urinalysis will show elevated levels of dermatan sulfate in the urine. A blood sample may be taken to assess the level of ASRB activity. Dermal fibroblast cells may also be examined for ASRB activity. Molecular genetic testing can give information about the specific mutation causing MPS-VI, but it is only available at specialized laboratories. Treatment
The treatment of Maroteaux–Lamy syndrome is symptomatic and individually tailored. A variety of specialists may be needed. In 2005, the FDA approved the orphan drug galsulfase (Naglazyme) for the treatment of Maroteaux–Lamy syndrome. Galsulfase is an enzyme replacement therapy (ERT) in which the missing ASRB enzyme is replaced with a recombinant version.In addition to ERT, various procedures can alleviate the symptoms of MPS-VI. Surgery may be necessary to treat abnormalities such as carpal tunnel syndrome, skeletal malformations, spinal cord compression, hip degeneration, and hernias. Some patients may need heart valve replacement. It may be necessary to remove the tonsils and/or adenoids. Severe tracheomalacia may require surgery. Physical therapy and exercise may improve joint stiffness.Hydrocephalus may be treated by the insertion of a shunt to drain excess cerebrospinal fluid. A corneal transplantation can be performed for individuals with severe corneal clouding.
In different populations worldwide, MPS-VI made up between 2 and 18.5% of all MPS disorders. History
It is named after Pierre Maroteaux (1926–2019) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French physicians. Society and culture
Keenan Cahill is a YouTuber with Maroteaux–Lamy syndrome.Isabel Bueso, a Guatemalan woman with Maroteaux–Lamy syndrome who has been receiving treatment at UCSF Benioff Childrens Hospital, was at risk of deportation from the United States after the Trump Administration ended the deferred action program in August 2019. In December 2019, she was granted another deferral of two years. See also
Hurler syndrome (MPS I)
Hunter syndrome (MPS II)
Sanfilippo syndrome (MPS III)
Morquio syndrome (MPS IV)

References


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