Mucopolysaccharidosis: An overview and new treatment modalities

Mucopolysaccharidosis is a lysosomal storage disorder, caused due to deficiency of enzymes required for the breakdown 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, organomegaly. Based on deficient they have divided into subtypes I (MPS I) Hunter syndrome (I H / HS S), II(MPS II) (severe mild form), III III) Sanfilippo syndrome, IV(MPS IV) Morquio VI(MPS VI) Maroteaux Lamy VI VII) Sly syndrome. Diagnosis classically based clinical examination urine analysis. Enzyme assay can also aid diagnosis. Chorionic villi sampling amniocentesis are becoming popular. The main objective treatment improve quality life. Symptomatic management includes daily exercise, physiotherapy, tonsillectomy, shunting surgery, transplantation. There recent concepts utilized Mucopolysaccharidosis. This review article emphasizes such aspects as Hematopoietic stem cell therapy, replacement Gene Nano-enabled Substrate reduction therapy.