Mutations underlying Fabry’s disease: how to get oriented between those that cause and those that do not cause the disease

Authors

  • Giovanni Duro IBIM-CNR-Palermo. Responsabile Centro di Ricerca e Diagnosi malattie da accumulo lisosomiale

DOI:

https://doi.org/10.33393/gcnd.2018.606

Abstract

Anderson-Fabry disease is a rare, progressive, multisystem, accumulation’s disorder caused by partial or total deficiency of the lysosomal enzyme α-GAL A. Fabry disease is an X-linked lysosomal enzymopathy determined by mutations in the GLA gene, coding for α-GAL A. To date, almost 900 mutations in Fabry patients have been described. Results: In our laboratories we studied the genetic and enzymatic alterations on almost 17,000 patients with systemic symptoms referable to Fabry disease. In 461 of these patients, exonic mutations in GLA were so classified: 73.5% of the mutations have been associated with classical phenotype, 17.2% with atypical variants, and 9.4% with GVUS. Conclusions: The considerable number of patients we studied, allowed us to demonstrate that there is a complete relationship between symptoms, genetic and enzymatic findings and Lyso-GB3 accumulation. Our study shows that in all patients with causative mutation, who have absent or reduced enzymatic activity, we find hematic Lyso-GB3 accumulation, commensurate with the type of mutation and always according with the patient symptomatology.

Downloads

Download data is not yet available.

Published

2019-02-04

How to Cite

Duro, G. (2019). Mutations underlying Fabry’s disease: how to get oriented between those that cause and those that do not cause the disease. Giornale Di Clinica Nefrologica E Dialisi, 30(3-4), 235–236. https://doi.org/10.33393/gcnd.2018.606

Issue

Section

AIAF Onlus - In collaboration with Associazione Italiana Anderson-Fabry

Metrics

Most read articles by the same author(s)