Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.

ABSTRACT:

Background

Elevated urinary globotriaosylceramide (Gb3) has been considered a hallmark of Fabry disease, an X-linked lysosomal disorder that is a risk factor for most types of heart disease.

Methods and results

We screened 1421 consecutive patients with common forms of heart disease for Fabry disease by measuring urinary Gb3 in whole urine using tandem mass spectrometry, α-galactosidase A activity in dried blood spots, and we looked for GLA mutations by parallel sequencing of the whole gene (exons and introns) in pooled genomic DNA samples followed by Sanger sequencing verification. GLA variants were found in 13 patients. In the 1408 patients without GLA mutations, urinary Gb3 levels were significantly higher in heart disease patients compared to 116 apparently healthy contr

SUBMITTER: Schiffmann R 

PROVIDER: S-EPMC3959711 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature