Pompe disease screening in a sample of iranian patients

Abstract

The reason why the experiments were done: previous studies have shown that the incidence rates vary in different populations. Now we report the preliminary results of the screening study. Pompe disease is a rare but potentially treatable disorder caused by the deficiency of the lysosomal enzyme acid-α-glucosidase (GAA). GAA activity was measured on DBS in 65 patients with undiagnosed myopathies presenting to the hospital of the research setting in Isfahan, Iran, from 2016 to 2017 and then was confirmed by genetic analysis. Of the total of 65 patients, 29 (44.6) were male, and 36 (55.4) were female. The mean age of the patients was 29±12.55 years, and their mean age at the disease onset was 17±12.75. Two patients (one male and one female) were diagnosed with a low acid alpha-glucosidase activity. Only one patient (female) showed a compound heterozygotic mutation of the GAA gene (c.-32-13T>G). Early diagnosis of Pompe disease is important for improving the outcome. © 2021 Tehran University of Medical Sciences.