Natural history of Sanfilippo syndrome in Spain.

ABSTRACT:

Background

Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS III types have been recognized, characterized by a large phenotypic heterogeneity. This is the first Spanish study describing the natural history of Sanfilippo patients (MPSIIIA, MPSIIIB and MPSIIIC), representing an essential step for understanding patient prognosis and for the establishment and application of future therapies.

Methods

This retrospective study aimed to establish the natural history of MPS III in Spain based on an extensive chronological data survey involving physicians and parents of 55 Spanish MPSIII patients. In addition to clinical description we report bioche

SUBMITTER: Delgadillo V 

PROVIDER: S-EPMC3879199 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature