ArticleTherapeutic advances in rare disease
A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in
Article in Therapeutic advances in rare disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Pyridoxine-dependent epilepsy (PDE) due to biallelic pathogenic variants in Objective: To treat this patient with triheptanoin to improve neurodevelopmental outcome. Design: Due to complex I deficiency and lack of response to the current standard therapy, we applied triheptanoin novel therapy. Methods: A 4-year-old male had compound heterozygous variants in Results: Triheptanoin was started at 10 mL/day. There was nausea up to 3 weeks after each dose increase, which has improved allowing us to increase triheptanoin gradually. The maximum actual dose of triheptanoin was 40% of EER. Cognitive composite score improved from 16% to 63% on treatment. All chemistry and biochemical investigations were normal. 6-oxopipecolic acid levels did not normalize. Triheptanoin treatment seemed to be safe and tolerated well. Conclusion: Triheptanoin is an anaplerotic agent to provide substrates to the TCA cycle. This novel therapy improved neurodevelopmental outcome in our patient with PDE-ALDH7A1. We think that trihepatonoin should be the part of the current standard therapy to improve neurodevelopmental outcomes in patients with PDE-ALDH7A1.
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