Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.

ABSTRACT:

Background

Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I-S) phenotype. However, there are no clear criteria for delineating the different phenotypes. Because decisions about optimal treatment (enzyme replacement therapy or hematopoietic stem cell transplantation) need to be made quickly and depend on the presumed phenotype, an assessment of phenotypic severity should be performed soon after diagnosis. Therefore, a numerical severity scale for classifying different MPS I phenotypes at diagnosis based on clinical signs and symptoms was developed.

Methods

A consensus procedure based on a combined modified Delphi meth

SUBMITTER: de Ru MH 

PROVIDER: S-EPMC3379958 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature