Mucopolysaccharidosis: An overview and new treatment modalities

Abstract

Mucopolysaccharidosis is a lysosomal storage disorder, caused due to deficiency of enzymes required for the breakdown of Mucopolysaccharides. These undegraded Mucopolysaccharides accumulate in various tissues and cause characteristic features like neurological deficit, impaired motor function, developmental delay, hearing loss, behavioral problems, corneal clouding, glaucoma, respiratory distress, coarse facial features, skeletal deformities, and organomegaly. Based on deficient enzymes they have divided into subtypes Mucopolysaccharidosis I (MPS I) Hunter syndrome (I H / I HS / I S), Mucopolysaccharidosis II(MPS II) Hunter syndrome (severe and mild form), Mucopolysaccharidosis III (MPS III) Sanfilippo syndrome, Mucopolysaccharidosis IV(MPS IV) Morquio syndrome, Mucopolysaccharidosis VI(MPS VI) Maroteaux Lamy syndrome, Mucopolysaccharidosis VI (MPS VII) Sly syndrome. Diagnosis is classically based on clinical examination and urine analysis. Enzyme assay can also aid in diagnosis. Chorionic villi sampling and amniocentesis are also becoming popular. The main objective of treatment is to improve the quality of life. Symptomatic management includes daily exercise, physiotherapy, tonsillectomy, shunting surgery, and corneal transplantation. There are various recent concepts utilized for the treatment of Mucopolysaccharidosis. This review article emphasizes such treatment aspects as Hematopoietic stem cell therapy, Enzyme replacement therapy, Gene therapy, Nano-enabled therapy, and Substrate reduction therapy.