Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

ABSTRACT:

Background

The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine the prevalence of late-onset Pompe disease (LOPD) among patients not previously diagnosed or tested for this entity despite presenting possible signs or symptoms of the disease in Internal Medicine departments in Spain.

Methods

This epidemiological, observational, cross-sectional, multicenter study included a single cohort of individuals with clinical suspicion of LOPD seen at Internal Medicine departments in Spain. The diagnosis of LOPD was initially established on the basis of the result of DBS. If decreased enzyme acid-alpha-1,4-glucosidase (GAA) activity

SUBMITTER: Lopez-Rodriguez M 

PROVIDER: S-EPMC10472593 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature