Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

ABSTRACT:

Purpose

Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.

Methods

Between 1 July 2014 and 31 December 2015, we screened 2,359 patients (1,324 males) referred from 168 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively.

Results

Of 8 males with elevated lyso-Gb3 levels (≥2.0 ng ml^-1) and low α-Gal A activity (≤4.0 nmol h

SUBMITTER: Maruyama H 

PROVIDER: S-EPMC6363642 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature