Mucopolysaccharidosis VI (MPS 6): Current Treatment and Future Perspectives with Focus on Enzyme Replacement Therapy, Gene Therapy and Glycosaminoglycans Clearance Therapy in Utero and After Delivery |Biomedgrid

Mucopolysaccharidosis (MPS) VI, also known as Maroteaux- Lamy syndrome, is a momentous, progressive and heterogeneous disease with severe pathologies affecting multiple organs which includes 2-18% of all mucopolysaccharidoses [1-3]. It was first described in 1963 by Pierre Maroteaux and Maurice Lamy [4]. It results from deficient activity of arylsulfatase B (ASB), the enzyme that degrades the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin sulfate. Nearly 130 missense, nonsense or intronic mutations were described to date [3,5-9]. The gene locus was found on chromosome 5 (5q13-5q14) on 8 exons [9,10]. The incidence is described as 1:250000-500000 newborns [2,11-13]. An autosomal recessive hereditary pattern was found [1-3,5-7,11-21]. The disease can be found early after delivery [22]. Intellectual deficit is normally absent or mildly present, which is in contrast to other MPS forms [11]. Although MPS VI has a wide variety of phenotypic forms, disease progression in patients is often described as rapid or slow. Rapidly progressive MPS VI is characterized by early onset usually before the age of 2 or 3 years with cardiac involvement [16,18,23].