| Autor: |
Özsaydı Aktaşoğlu, Ekin, Kılıç, Ayşe, Emecen Şanlı, Merve, İnci, Aslı, Aktaş, Emine, Akdulum, İsmail, Yaylı, Nezih, Okur, İlyas, Ezgü, Fatih Süheyl, Tümer, Leyla |
| Zdroj: |
Journal of Pediatric Endocrinology & Metabolism; Sep2024, Vol. 37 Issue 9, p820-824, 5p |
| Abstrakt: |
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. 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. 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
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