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
Journal of Pediatric Endocrinology and Metabolism, vol.37, no.9, pp.820-824, 2024 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 37 Issue: 9
- Publication Date: 2024
- Doi Number: 10.1515/jpem-2024-0284
- Journal Name: Journal of Pediatric Endocrinology and Metabolism
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, MEDLINE
- Page Numbers: pp.820-824
- Keywords: 3-hydroxybutyric acid, glycogen storage disease type V, metabolic myopathy, modified atkins diet, shear wave elastography
- Yozgat Bozok University Affiliated: No
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 442U/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.