Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

ABSTRACT: Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these d

SUBMITTER: Giugliani R 

PROVIDER: S-EPMC3036139 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature