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Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The molecular defect (Figure 81.1) is in the enzyme N-acetylgalactosamine-4-sulfatase [3, 4]. It catalyzes the removal of sulfate moieties from both dermatan sulfate and chondroitin-4-sulfate. This protein is the Maroteaux–Lamy corrective factor [5]. The human cDNA has been cloned [6] and the gene has been mapped to chromosome 5q13-14 [7]. A variety of mutations have been identified [8, 9].
Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses
Published in Expert Opinion on Biological Therapy, 2021
Azam Safary, Hakimeh Moghaddas-Sani, Mostafa Akbarzadeh-Khiavi, Alireza Khabbazzi, Mohammad A. Rafi, Yadollah Omidi
Galsufase, as a recombinant human arylsulfatase B (ARSB, Naglazyme®, N-acetylgalactosamine-4-sulfatase, EC: 3.1.6.12), produced in the CHO cells, has been approved by the FDA in 2005 for the treatment of the MPS VI [67]. Galsulfase is a glycoprotein with approximately 56 kDa molecular weight composed of 495 amino acids, which contains six asparagine-linked glycosylation sites, four of which carry a bis-M6P oligosaccharide for specific cellular recognition. The deficient activity of the N-acetylgalactosamine-4-sulfatase in MPS VI patients leads to the accumulation of the partially degraded GAGs and DS in a wide range of tissues, causing multiple organ dysfunction and a shortened lifespan [82]. Like the other forms of the MPS, clinical manifestations of the MPS VI vary widely, and depending on the specific cases, disease progression may be rapid or slow [32]. Phase I, II, III, and IV clinical trials have been completed using recombinant human arylsulfatase B to treat patients with the MPS VI (NCT00048620; NCT00048711; NCT00104234; NCT00067470; NCT00299000). Clinical studies have demonstrated that weekly IV infusion of Galsufase (1 mg/kg) is well tolerated, with results showing reduced urinary GAG excretion and improved respiratory function and general growth [83–85].