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Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1

Roshan Koul1, Amna Alfutaisi2, Rana Abdelrahim2

  • 1Department of Neurology, Institute of Liver and Biliary Sciences, New Delhi, India.

Journal of Neurosciences in Rural Practice
|December 14, 2019
PubMed

Insights

Pyridoxine responsive seizures (PDRs) in infants often lack genetic confirmation, with many cases unidentified. Further research may reveal new genes or metabolic disorders responsible for this condition.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Pyridoxine responsive seizures (PDRs) present as early-onset seizures and epileptic encephalopathy in neonates and infants.
  • Seizures in PDRs can manifest in various forms, posing diagnostic challenges.

Purpose of the Study:

  • To analyze the clinical profile of 35 children diagnosed with PDRs over a 20-year period.
  • To investigate the genetic basis and identify mutations associated with PDRs.

Main Methods:

  • A retrospective analysis of neonatal and infantile seizures responding to pyridoxine from 1998 to 2018.
  • Classification into four groups based on clinical features, lab results, and genetic testing: ALDH7A1 mutation, PLPHP mutation, no known mutation, or combination with antiepileptic drugs.

Main Results:

  • Sixteen out of 35 children had identifiable genetic mutations.
  • Four children had ALDH7A1 mutations, and 12 had recently described PLPHP mutations.
  • Nineteen children (over half) showed no genetic positivity for known mutations.

Conclusions:

  • A significant proportion of children with PDRs lack genetic confirmation of known mutations.
  • The identification of new genes or previously unknown metabolic disorders is crucial for understanding pyridoxine dependency.

Keywords:
aldehyde dehydrogenase 7A1pyridoxal phosphate homeostasis proteinpyridoxinepyridoxine-dependent epilepsy

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