Reduced GABA synthesis in pyridoxine-dependent seizures

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...

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Veröffentlicht in:The Lancet (British edition) 1994-05, Vol.343 (8906), p.1133-1134
Hauptverfasser: Gospe, S.M., Olin, K.L., Keen, C.L.
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(94)90236-4