Abstract

The mucopolysaccharidosis (MPS) are inherited metabolic disorders caused by deficiencies of the enzymes responsible of the intralysosomal catabolism of glycosaminoglycans (GAGs). The MPS are inherited as autosomic recessives, except Hunter disease that has a X-chromosomal linked inheritance. With an incidence of approximately 1: 10 000 to 25 000 live newborns, the MPS are the most frequent of the lysosomal storage diseases. The progressive accumulation of GAG in the different organs causes multisystemic compromise. The more prominent symptoms of MPS are coarse facies, macrocephaly, corneal clouding, multiple bone dysplasias, short stature, mitral and aortic valve abnormalities, hepatosplenomegaly, umbilical and inguinal hernias, all of these symptoms may be associated with psychomotor developmental retardation and progressive neurological deterioration. Because the lack of therapies, except for the less severe forms of the MPS I, patients live no more than 10 to 40 years. In this review are presented the clinical characteristics of each MPS phenotype, as well as the laboratory study and the progress in the development of safe and efficient therapies