Novel mutations in pyridoxine-dependent epilepsy

Eur J Paediatr Neurol. 2011 Jan;15(1):74-7. doi: 10.1016/j.ejpn.2010.03.011. Epub 2010 Apr 28.

Abstract

Purpose: Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease has to be diagnosed early and treated to improve outcome. We report on two new mutations that open new prenatal prospects and suggest a new diagnostic procedure.

Case report: We describe PDE in a neonate carrying two novel mutations in the ALDH7A1 gene: c.[852_856delCTTAG] + [1230C > A]; p.[(Phe410Leu)] + p.[(Leu285CysfsX26)]. This case also illustrates that diagnosis could have been made without any pyridoxine withdrawal, thanks to the measurement of biomarkers. The patient was successfully treated with pyridoxine supplementation and currently shows normal neurological development.

Publication types

  • Case Reports

MeSH terms

  • Aldehyde Dehydrogenase / genetics*
  • Amino Acid Substitution / genetics
  • Child, Preschool
  • Epilepsy / enzymology*
  • Epilepsy / genetics*
  • Female
  • Frameshift Mutation / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense / genetics*
  • Young Adult

Substances

  • ALDH7A1 protein, human
  • Aldehyde Dehydrogenase

Supplementary concepts

  • Pyridoxine-dependent epilepsy