pyridoxine-dependent epilepsyResearch
A novel therapy using triheptanoin shows promise for treating pyridoxine-dependent epilepsy linked to ALDH7A1 variants, addressing secondary mitochondrial energy deficiency. The treatment has demonstrated improvements in neurodevelopmental outcomes.
novel therapy for pyridoxine dependent epilepsy due to biallelic pathogenic variants in aldh7a1 secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment
Original title: “A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment.”