Background: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. 

Objective: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool.

Methods: This cross-sectional study was performed on the 93 patients who attended to the neuromuscular center of Bu-ali hospital in Tehran, Iran, during 2014-2015. Inclusion criteria were: 1) age ≥1 years, 2) proximal myopathies of unknown etiology in lower limbs or symptoms of limb girdle muscle weakness (LGMW), and 3) unexplained elevated CPK (>174). Acid α-glucosidase (GAA) activity was measured separately on DBS by fluorometric method. For the final diagnosis, GAA deficiency was confirmed by a biochemical assay in skeletal muscle, whereas genotype was assessed by GAA molecular analysis. All statistical tests were performed using the SPSS version 16. Results are presented as mean (SD) or median (IQR), as appropriate.

Results: In a 12-month period, we studied 93 cases: 5 positive samples (5.3%) were detected by DBS screening, biochemical and molecular genetic studies finally confirmed LOPD diagnosis in 3 cases (3.22%). Among the 93 patients, 100% showed hyperCKemia, 89 patients (95.7%) showed LGMW and 4 patients had symptoms of proximal myopathies in the lower limb.

Conclusions: Results from the LOPED study suggest that GAA activity requires accurate screening by DBS in all patients referred for hyperCKemia and/or LGMW.


Keywords: Pompe disease, Proximal myopathy, hyperCKemia
» HTML Fulltext    » PDF Fulltext    » doi: 10.19082/4886

Current Issue

July-September 2019 (Volume 11, Issue 3)


Previous Issue

In the second issue of the journal Electronic Physician for 2019, we have several papers including four Randomized Controlled Trials, a model development study, a case report, an editorial, a letter to editor (LTE), and several original research including two studies with qualitative approach. Authors of this issue are from nine countries: Iran, The Netherlands, Sweden, Italy, India, Thailand, Saudi Arabia, United Arab Emirates (UAE), and Jordan. Read more...


The 6th World Conference on Research Integrity (WCRI) is to be held on June 2-5, 2019 in Hong Kong.

The WCRI is the largest and most significant international conference on research integrity. Since the first conference in Lisbon in 2007, it has given researchers, teachers, funding agencies, government officials, journal editors, senior administrators, and research students opportunities to share experiences and to discuss and promote integrity in research. Read more:


TDR Clinical Research and Development Fellowships

Call for applications

Deadline for submission: 7 March 2019, 16:00 (GMT)

TDR provides fellowships for early- to mid-career researchers and clinical trial staff (e.g. clinicians, pharmacists, medical statisticians, data managers, other health researchers) in low- and middle-income countries (LMICs) to learn how to conduct clinical trials. Read more:

Meta-Analysis Workshops in New York, USA, and London, UK, in April and May 2019

Don't miss this exceptional opportunity to learn how to perform and report a Meta-analysis correctly. Two Meta-analysis workshops are organized in April and May 2019 by Dr. Michael Borenstein in New York, USA (April 08-10, 2019) and London, UK (May 27-29).

About the Instructor

Dr. Michael Borenstein, one of the authors of Introduction to Meta-Analysis, is widely recognized for his ability to make statistical concepts accessible to researchers as well as to statisticians. He has lectured widely on meta-analysis, including at the NIH, CDC, and FDA. Read more: