Update in the Mucopolysaccharidoses

Abstract

The mucopolysaccharidoses (MPS) are a genetically heterogenous group of enzyme deficiencies marked by accumulation of glycosaminoglycans in lysosomes leading to multisystem disease. Although significant therapeutic advances have been made for the MPS disorders, including recombinant enzyme replacement approaches, the neuronopathic features of MPS lack adequate treatment. Gene therapies, including adeno-associated virus vectors targeting the central nervous system, hold significant promise for this group of disorders. Optimal outcomes of all therapies will require early disease identification and treatment, ideally by newborn screening.