CSF glutamate/GABA concentrations in pyridoxine-dependent seizures : etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control

Several lines of evidence suggest that the binding affinity of glutamate decarboxylase (GAD) to the active form of pyridoxine is low in cases of pyridoxine-dependent seizures (PDS) and that a quantitative imbalance between excitatory (i.e. glutamate) and inhibitory (i.e. gamma-aminobutyric acid, GAB...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2001-03, Vol.23 (1), p.24-29
Main Authors: GOTO, Tomohide, MATSUO, Nobutake, TAKAHASHI, Takao
Format: Article
Language:English
Subjects:
Biological and medical sciences
gamma-Aminobutyric Acid - blood
gamma-Aminobutyric Acid - cerebrospinal fluid
Glutamate Decarboxylase - deficiency
Glutamic Acid - blood
Glutamic Acid - cerebrospinal fluid
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Infant
Male
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
Pyridoxine - metabolism
Pyridoxine - pharmacokinetics
Seizures - cerebrospinal fluid
Seizures - drug therapy
Seizures - etiology
Seizures - physiopathology
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Summary:Several lines of evidence suggest that the binding affinity of glutamate decarboxylase (GAD) to the active form of pyridoxine is low in cases of pyridoxine-dependent seizures (PDS) and that a quantitative imbalance between excitatory (i.e. glutamate) and inhibitory (i.e. gamma-aminobutyric acid, GABA) neurotransmitters could cause refractory seizures. However, inconsistent findings with GAD insufficiency have been reported in PDS. We report a case of PDS that is not accompanied by an elevated cerebrospinal fluid (CSF) glutamate concentration. Intravenous pyridoxine phosphate terminated generalized seizures which were otherwise refractory to conventional anti-epileptic medicines. No seizure occurred once oral pyridoxine (13.5 mg/kg per day) was started in combination with phenobarbital sodium (PB, 3.7 mg/kg per day). The electroencephalogram (EEG) normalized approximately 8 months after pyridoxine was started. The patient is gradually acquiring developmental milestones during the 15 months follow-up period. The CSF glutamate and GABA concentrations were determined on three separate occasions: (1) during status epilepticus; (2) during a seizure-free period with administration of pyridoxine and PB; and (3) 6 days after suspension of pyridoxine and PB and immediately before a convulsion. The CSF glutamate level was below the sensitivity of detection (
ISSN:0387-7604
1872-7131
DOI:10.1016/S0387-7604(00)00193-5