Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

ABSTRACT:

Background

Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described "Classic" and "late onset" which cannot be predicted exclusively by genotype. The latter has been considered an attenuated form of the disease often affecting a single organ system commonly the heart. Recent studies have demonstrated that cardiac outcomes are similar in patients with classic and late onset mutations. In this study we investigate the relationship between clinical heterogeneity and plasma lyso-Gb3 in a large single centre cohort of N215S patients and compare this to patients with other mutations.

Methods

In this single-centre, retrospe

SUBMITTER: Lavalle L 

PROVIDER: S-EPMC5886405 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature