P394: Combined oxidative phosphorylation deficiency 35 due to TRIT1 variants: Novel phenotypes and ketogenic diet utilization
Abstract
This report contributes to the growing understanding of COXPD35 phenotypic spectrum and emphasizes management strategy considerations that may improve patient outcomes. Specifically, the finding of severe dilated cardiomyopathy in this case, a novel cardiac phenotype for COXPD35, highlights the importance of cardiac evaluation following diagnosis. Additionally, the utilization of ketogenic diet resulted in seizure frequency reduction for our patient, previously reported in only one other affected individual, further supporting the potential benefit of ketogenic diet in COXPD35.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Mitochondrial Function and Pathology
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103888–103888
- Publication date
- 1 January 2026
- Language
- EN