New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography

Ekin Özsaydı Aktaşoğlu; Ayşe Kılıç; Merve Emecen Şanlı; Aslı İnci; Emine Aktaş; İsmail Akdulum; Nezih Yaylı; İlyas Okur; Fatih Süheyl Ezgü; Leyla Tümer

doi:10.1515/jpem-2024-0284

Article

New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography

Ekin Özsaydı Aktaşoğlu , Ayşe Kılıç , Merve Emecen Şanlı , Aslı İnci , Emine Aktaş , İsmail Akdulum , Nezih Yaylı , İlyas Okur , Fatih Süheyl Ezgü and Leyla Tümer

Published/Copyright: August 6, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 9

Abstract

Objectives

Glycogen storage disease type V is caused by the mutations in muscle glycogen phosphorylase gene. This is the first report which DL-3-hydroxybutyric acid was used in combination with modified Atkins diet for the treatment of a patient with glycogen storage disease type V and quadriceps femoris shear wave elastography was performed to evaluate the treatment efficacy.

Case presentation

A 13-year-old girl was referred with fatigue and muscle cramps with exercise and there were no pathological findings in physical examination. Creatine kinase levels with 442 U/L. No phosphorylase enzyme activity was detected in muscle biopsy, a homozygous c.1A>G (p.M1V) pathogenic mutation was found in PYGM gene. She was started on DL-3-hydroxybutyric acid and modified Atkins diet at age 16. Her walking and stair climbing capacity increased, the need for rest during exercise decreased. The stiffness of the quadriceps femoris exhibited a reduction.

Conclusions

DL-3-hydroxybutyric acid and modified Atkins diet may provide an alternative fuel and shear wave elastography may be useful in demonstrating treatment efficacy. More clinical and pre-clinical studies are obviously needed to reach more definite conclusions.

Keywords: glycogen storage disease type V; metabolic myopathy; modified atkins diet; 3-hydroxybutyric acid; shear wave elastography

Corresponding author: Ekin Özsaydı Aktaşoğlu, MD, Medical Doctor, Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Emniyet, Mevlana Blv. No:29, 06560 Yenimahalle, Ankara, Türkiye, E-mail: ekin.aktasoglu@gmail.com

Present address: Ekin Özsaydı Aktaşoğlu, Dr. Sami Ulus Child Health Training and Research Hospital, University of Health Sciences, Aşağı Eğlence, Emrah, Etlik Caddesi No: 55, 06010 Keçiören/Ankara, Türkiye. Present address: Ayşe Kılıç, Ankara Training and Research Hospital, Zekai Tahir Burak outbuilding, Hacettepe, Hacettepe Hamamönü, Talatpaşa Blv No: 128, 06230 Altındağ/Ankara, Türkiye. Present address: Merve Emecen Şanlı, İstanbul Medeniyet Üniversity İstanbul, Türkiye.

Research ethics: The study was exempted from review because of being a case report.
Informed consent: Written informed consent was obtained from the parents whose child participated in this study.
Author contributions: Conceptualization: Ekin Özsaydı Aktaşoğlu, Merve Emecen Şanlı, Aslı İnci, İlyas Okur, Fatih Süheyl Ezgü, Leyla Tümer. Data curation; Ekin Özsaydı Aktaşoğlu, Ayşe Kılıç, Merve Emecen Şanlı, Emine Aktaş, Nezih Yaylı, İsmail Akdulum. Formal analysis: Ekin Özsaydı Aktaşoğlu, Nezih Yaylı, İsmail Akdulum. Investigation and Methodology: Ekin Özsaydı Aktaşoğlu, Aslı İnci, İlyas Okur, Fatih Süheyl Ezgü, Leyla Tümer. Supervision; Aslı İnci, Fatih Süheyl Ezgü and Leyla Tümer. Writing – original draft: Ekin Özsaydı Aktaşoğlu, Nezih Yaylı. Writing - review & editing: Ekin Özsaydı Aktaşoğlu, Aslı İnci, Fatih Süheyl Ezgü, Leyla Tümer.
Competing interests: Authors state no conflict of interest.
Research funding: None declared.
Data availability: The data will be available on a reasonable request.

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Received: 2024-03-06

Accepted: 2024-07-17

Published Online: 2024-08-06

Published in Print: 2024-09-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0284

Keywords for this article

glycogen storage disease type V; metabolic myopathy; modified atkins diet; 3-hydroxybutyric acid; shear wave elastography