Fabry disease in the Spanish population: observational study with detection of 77 patients.

ABSTRACT:

Background

Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often complicated by the detection of variants of unclear diagnostic interpretation, usually identified in screening studies. We performed an observational study based on biochemical and genetic analysis of 805 dried blood spot samples from patients with clinical symptoms or family history of this pathology, which were collected from 109 Spanish hospitals, all over the country.

Results

We identified 77 new diagnosed patients with mutations related to classical Fabry disease, as well as 2 subjects with c.374A > T; p.His125Leu, a

SUBMITTER: Vieitez I 

PROVIDER: S-EPMC5891901 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature