Abstract
Carnitine-acylcarnitine translocase deficiency with SLC25A20 c.199-10T>G variation is a rare condition, typically associated with severe neonatal outcomes. Recently, preimplantation genetic testing (PGT) has emerged as a screening test applicable to embryos produced through in vitro fertilization for genetic analysis before transfer. Thus, PGT allows for the identification and elimination of embryos carrying inherited genetic diseases. This case report aims to present data from PGT on intervention in the management of SLC25A20 c.199-10T>G variation, particularly in middle-income countries. A 26-year-old woman with a high-risk term pregnancy and a history of two sudden neonatal deaths underwent parental carrier testing, revealing heterozygous SLC25A20 c.199-10T>G variation in both parents. The subsequent pregnancy, identified as a homozygous for SLC25A20 c.199-10T>G mutation, was terminated at 20 weeks. The current pregnancy was successfully managed by in vitro fertilization-selective embryo transfer. Carnitine-acylcarnitine translocase deficiency owing to SLC25A20 c.199-10T>G variation can result in sudden neonatal collapse. Obstetricians should maintain a high index of suspicion in recurrent cases of unexplained early neonatal death. Parental carrier testing is crucial for prenatal management, and selective embryo transfer is a core treatment for heterozygous SLC25A20 gene carriers in this highly lethal disorder.
Keywords
Publication details
- DOI
- 10.5001/omj.2025.17
- Journal
- Oman Medical Journal, 40(3)
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
- License
- CC BY-NC 4.0
Cite this article
APA 7
Trinh, N. B., Vuong, A. D. B., & Nguyen, P. N. (2025). Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review. Oman Medical Journal, 40(3). https://doi.org/10.5001/omj.2025.17
MLA 9
Trinh, Ngoc Bich, et al. "Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review." Oman Medical Journal, vol. 40, no. 3, 2025. https://doi.org/10.5001/omj.2025.17.
Chicago (author–date)
Trinh, Ngoc Bich, Anh Dinh Bao Vuong, and Phuc Nhon Nguyen. 2025. "Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review." Oman Medical Journal 40 (3). https://doi.org/10.5001/omj.2025.17.
Harvard
Trinh, N. B., Vuong, A. D. B. and Nguyen, P. N. (2025) 'Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review', Oman Medical Journal, 40(3). doi:10.5001/omj.2025.17.
Vancouver
Trinh NB, Vuong ADB, Nguyen PN. Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review. Oman Medical Journal. 2025;40(3). doi:10.5001/omj.2025.17
IEEE
N. B. Trinh, A. D. B. Vuong, and P. N. Nguyen, "Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review," Oman Medical Journal, vol. 40, no. 3, 2025, doi: 10.5001/omj.2025.17.