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Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.

Izabella Agostinho Pena1,2, Alex MacKenzie1,2, Clara D M Van Karnebeek3

  • 1a Children's Hospital of Eastern Ontario (CHEO) Research Institute , Ottawa , ON , Canada.

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|July 31, 2018
PubMed
Summary

Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder caused by ALDH7A1 gene mutations. While pyridoxine (vitamin B6) treats seizures, adjunct therapies like lysine restriction and arginine supplementation are crucial for neurodevelopmental outcomes.

Keywords:
Pyridoxine-dependent epilepsyaldh7a1aminoadipate semialdehyde synthaseantiquitinarginine supplementationlysine restrictionpyridoxal phosphatepyridoxinerecurrent seizurestreatmentvitamin B6

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Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder causing severe neonatal seizures.
  • It stems from ALDH7A1 gene mutations affecting lysine degradation and leading to toxic metabolite accumulation.
  • Accumulated metabolites like P6C inactivate pyridoxal-5'-phosphate (PLP), the active form of vitamin B6.

Purpose of the Study:

  • To review current and emerging treatments for pyridoxine-dependent epilepsy (PDE).
  • To discuss PDE phenotype, diagnosis, management, and future research directions.
  • To highlight the need for adjunctive therapies beyond pyridoxine supplementation.

Main Methods:

  • Comprehensive literature review of PDE.
  • Analysis of current treatment strategies including pyridoxine, lysine restriction, and arginine supplementation.
  • Exploration of preclinical therapeutic approaches such as antisense and substrate reduction therapy.

Main Results:

  • Pyridoxine (vitamin B6) effectively controls seizures in PDE.
  • Despite pyridoxine, over 75% of patients experience neurodevelopmental delays.
  • Adjunctive therapies (lysine restriction, arginine supplementation, 'triple therapy') show promise in improving outcomes.

Conclusions:

  • PDE management requires lifelong pyridoxine supplementation.
  • Adjunctive therapies are essential for mitigating neurodevelopmental delays in PDE patients.
  • Novel therapies are under investigation to further improve PDE treatment and patient prognosis.