Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.

ABSTRACT:

Introduction

Pompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene GAA, encoding Acid alpha-glucosidase (GAA), the lysosomal enzyme catalyzing glycogen breakdown to glucose.

Methods

We performed molecular screening in a cohort of 15,068 participants with suspected PD of a wide range of age from several regions of Russia. Two screenings had been undertaken from 2014 to 2025, and 2021 to 2025, respectively: 13,128 patients were screened using "two-tier one-gene" algorithm (measurement of GAA activity in dried blood spots followed by Sanger sequencing of the GAA) and 1940 patients were screened using Next-Generation Sequencing (NGS)-based algorithm (NGS of the panel of genes linked to neuromuscular di

SUBMITTER: Pushkov A 

PROVIDER: S-EPMC12893986 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature