Reduced GABA synthesis in pyridoxine-dependent seizures

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

doi:10.1016/S0140-6736(94)90236-4

Reduced GABA synthesis in pyridoxine-dependent seizures

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

Endocrinology, Diabetes, and Metabolism

Research output: Contribution to journal › Article › peer-review

62 Scopus citations

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 language	English (US)
Pages (from-to)	1133-1134
Number of pages	2
Journal	The Lancet
Volume	343
Issue number	8906
DOIs	https://doi.org/10.1016/S0140-6736(94)90236-4
State	Published - May 7 1994

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title = "Reduced GABA synthesis in pyridoxine-dependent seizures",

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.",

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AB - 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.

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Reduced GABA synthesis in pyridoxine-dependent seizures

Abstract

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