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A center cohort study tracks biochemical changes and practical adherence issues with lysine reduction therapies in 17 PDE-ALDH7A1 patients.
Many families ask: “Does lysine-restricted diet actually reduce the toxic metabolites?” This cohort report addresses that directly by describing how lysine reduction therapies have been used alongside pyridoxine for many years at one center.
The authors report that lysine-restricted diet (LRD) reduced plasma lysine and lowered urine alpha-AASA, with a correlation between these measures in individual patients. They also report that LRD alone was sufficient to reach the target plasma lysine range in their cohort, and that adding arginine was not required to achieve those biochemical targets.
The deeper practical and scientific message is that therapy success is not just “does it work,” but “can families sustain it.” The study notes that transitioning to LRD and maintaining long-term adherence was easier when started under 6 months of age. Seizure control did not improve beyond what pyridoxine already achieved, but the rationale for diet remains neuroprotection: reducing chronic exposure to alpha-AASA/P6C during critical brain development windows.
Why this matters
It provides real-world data on biochemical response and adherence challenges, both of which are essential for designing better care protocols and support systems for families.
Limitations
This is a single-center cohort with limited long-term follow-up and without randomized comparison, so developmental outcome conclusions remain cautious.
Sources
- “Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency – A cohort study.” Molecular Genetics and Metabolism (2025). DOI: 10.1016/j.ymgme.2025.109170 (PubMed: 40680317)
Safety note: This summary is educational and not medical advice.
