Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy

J Inherit Metab Dis. 2007 Feb;30(1):2-4. doi: 10.1007/s10545-008-9974-1.
No abstract available

Publication types

  • Comment
  • Editorial

MeSH terms

  • Aldehyde Dehydrogenase / deficiency
  • Epilepsy / drug therapy*
  • Epilepsy / genetics
  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / genetics
  • Pyridoxal Phosphate / therapeutic use
  • Pyridoxaminephosphate Oxidase / deficiency*
  • Pyridoxine / metabolism
  • Pyridoxine / therapeutic use

Substances

  • Pyridoxal Phosphate
  • Aldehyde Dehydrogenase
  • Pyridoxaminephosphate Oxidase
  • Pyridoxine