MPS VI

MPS VI

Maroteaux-Lamy disease

An autosomal recessive condition (OMIM:253200) caused by arylsulfatase B deficiency.

Clinical findings
Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly.
 
Management
Bone transplant; enzyme replacement therapy with galsulfase (Naglazyme) improves growth and joint movement, but is extremely expensive ($350K/year).
References in periodicals archive ?
Odiparcil development advances with recruitment of first patients in a new biomarker study in MPS VI children and adults
(6) Mukopolisakkaridoz olgularinin otolaringolojik sorunlari yonunden degerlendirildigi bir diger calismada ise Mallampati skoru 3-4 olan hastalarin cogunlugunu MPS II ve MPS VI hastalarinin olusturdugu gorulmustur.
[10] MPS patients (55 of III, MPS IV, MPS VI, whom agreed to participate) MPS type unknown Hendriksz Adult and pediatric Morquio A Syndrome et al.
The use of galsulfase (Naglazyme) for Maroteaux-Lamy syndrome during pregnancy is under study by the Mucopolysaccharidosis VI (MPS VI) Clinical Surveillance Program (415-506-6849 or 415-506-6703)
INTRODUCTION: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome, MPS VI) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB) gene, resulting in the accumulation of glycosaminoglycans (GAGs) in cells and tissues all over the body.
"Therapies are available for only 6 LSDs - Gaucher, Pompe, Fabry, Mucopolysaccharidosis (MPS) I (Hurler syndrome), MPS II (Hunter Syndrome) and MPS VI (MaroteauxLamy)," said Prof.
Currently therapies are available for only 6 LSDs - Gaucher, Pompe, Fabry, Mucopolysaccharidosis (MPS) I (Hurler syndrome), MPS II (Hunter Syndrome) and MPS VI (MaroteauxLamy).Previously, it was very challenging to diagnose these cases and blood samples were sent to different countries like UK, USA, Germany, Argentina, and India for the diagnosis and the cost of each test was 12,000 to 15,000 rupees.
Ha onze tipos de MPS, mas medicamentos para apenas tres delas, a MPS I (laronidase), a MPS II (idursulfase) e a MPS VI (galsulfase).
Atlantoaxial instability with resultant myelopathy and spastic quadriparesis has been described in both, MPS IV and MPS VI. Cervical fixation at the occiput-to-C2 level is frequently needed in these patients and in fact profilactic occipito-cevical fusion has been strongly advocated for patients with Morquio syndrome independent of neurological symptoms [1, 5].
This acquisition of the intellectual property includes patents related to the purified form of Naglazyme and the method of using the enzyme in the treatment of MPS VI, which expire between 2022 and 2023.
The portfolio in question includes patents related to the purified form of Naglazyme and the method of using the enzyme in the treatment of mucopolysaccharidosis VI (MPS VI), which expire between 2022 and 2023.
(TSE: 4563) announced that on April 14 that the company launched Naglazyme (galsulfase) for patients with the genetic disease mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome).