Reduced GABA synthesis in pyridoxine-dependent seizures.

Journal Article (Journal Article)

An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesizes gamma-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblasts from an infant with pyridoxine-dependent seizures, and from five controls, was measured. PLP independent GAD activity was similar in control and patient fibroblasts, whereas the patient's PLP dependent GAD activity was reduced compared with controls. These findings support the hypothesis for the expression of this familial disease.

Full Text

Duke Authors

Cited Authors

  • Gospe, SM; Olin, KL; Keen, CL

Published Date

  • May 7, 1994

Published In

Volume / Issue

  • 343 / 8906

Start / End Page

  • 1133 - 1134

PubMed ID

  • 7910233

International Standard Serial Number (ISSN)

  • 0140-6736

Digital Object Identifier (DOI)

  • 10.1016/s0140-6736(94)90236-4


  • eng

Conference Location

  • England