%0 Case Reports
%T 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.
%A Özsaydı Aktaşoğlu E
%A Kılıç A
%A Emecen Şanlı M
%A İnci A
%A Aktaş E
%A Akdulum İ
%A Yaylı N
%A Okur İ
%A Ezgü FS
%A Tümer L
%J J Pediatr Endocrinol Metab
%V 37
%N 9
%D 2024 Sep 25
%M 39101220
%F 1.52
%R 10.1515/jpem-2024-0284
%X <B>OBJECTIVE: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.