Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency

Mol Genet Metab. 2007 Aug;91(4):405. doi: 10.1016/j.ymgme.2007.04.016. Epub 2007 Jun 8.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Aldehyde Dehydrogenase / deficiency
  • Aldehyde Dehydrogenase / genetics*
  • Biomarkers
  • Humans
  • Polymorphism, Single Nucleotide
  • Seizures / enzymology
  • Seizures / etiology
  • Seizures / genetics

Substances

  • Biomarkers
  • ALDH7A1 protein, human
  • Aldehyde Dehydrogenase