Reduced GABA synthesis in pyridoxine-dependent seizures

S. M. Gospe, K. L. Olin, Carl L Keen

Research output: Contribution to journalArticle

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Abstract

An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesises γ-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.

Original languageEnglish (US)
Pages (from-to)1133-1134
Number of pages2
JournalThe Lancet
Volume343
Issue number8906
DOIs
StatePublished - May 7 1994

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Aminobutyrates
Pyridoxal Phosphate
Glutamate Decarboxylase
Fibroblasts
Skin
Enzymes
Pyridoxine-dependent epilepsy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Gospe, S. M., Olin, K. L., & Keen, C. L. (1994). Reduced GABA synthesis in pyridoxine-dependent seizures. The Lancet, 343(8906), 1133-1134. https://doi.org/10.1016/S0140-6736(94)90236-4

Reduced GABA synthesis in pyridoxine-dependent seizures. / Gospe, S. M.; Olin, K. L.; Keen, Carl L.

In: The Lancet, Vol. 343, No. 8906, 07.05.1994, p. 1133-1134.

Research output: Contribution to journalArticle

Gospe, SM, Olin, KL & Keen, CL 1994, 'Reduced GABA synthesis in pyridoxine-dependent seizures', The Lancet, vol. 343, no. 8906, pp. 1133-1134. https://doi.org/10.1016/S0140-6736(94)90236-4
Gospe, S. M. ; Olin, K. L. ; Keen, Carl L. / Reduced GABA synthesis in pyridoxine-dependent seizures. In: The Lancet. 1994 ; Vol. 343, No. 8906. pp. 1133-1134.
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