Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations

Mol Genet Metab. 2013 Sep-Oct;110(1-2):197. doi: 10.1016/j.ymgme.2013.04.018. Epub 2013 Apr 30.
No abstract available

Keywords: ALDH7A1; Alpha-aminoadipic acid semialdehyde; CSF; CSF pipecolic acid; CSF-PA; P-PA; P6C; PA; PDE; PDE caused by ALDH7A1 genetic defect; PDE-ALDH7A1; Pipecolic acid; Pyridoxine dependent epilepsy; U-PA; alpha-aminoadipic acid semialdehyde; alpha-aminoadipic semialdehyde dehydrogenase; cerebral spinal fluid; pipecolic acid; piperidine 6-carboxylic acid; plasma pipecolic acid; pyridoxine dependent epilepsy; urine pipecolic acid; α-AASA; α-AASAD.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Aldehyde Dehydrogenase / genetics*
  • Child
  • Epilepsy / blood
  • Epilepsy / genetics*
  • Epilepsy / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • Pipecolic Acids / blood*
  • Pyridoxine / genetics

Substances

  • Pipecolic Acids
  • ALDH7A1 protein, human
  • Aldehyde Dehydrogenase
  • pipecolic acid
  • Pyridoxine

Supplementary concepts

  • Pyridoxine-dependent epilepsy