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  • Title: Pyridoxine-dependent seizures associated with white matter abnormalities.
    Author: Jardim LB, Pires RF, Martins CE, Vargas CR, Vizioli J, Kliemann FA, Giugliani R.
    Journal: Neuropediatrics; 1994 Oct; 25(5):259-61. PubMed ID: 7885536.
    Abstract:
    Pyridoxine-dependent seizures are a disorder of GABA metabolism probably due to a defective binding of pyridoxal phosphate coenzyme (PALP) with glutamate decarboxylase (GAD), the rate-limiting enzyme in GABA synthesis. The resulting GABA deficiency causes severe epilepsy in infancy. We report on a boy with seizures starting soon after birth, and only controlled by pyridoxine at pharmacological dosages. After two months without seizures, a CT scan showed hypodense white matter in frontal and occipital lobes suggestive of a retarded or defective myelination. We are not aware of other descriptions of such morphological abnormalities in a patient with this disorder.
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