FOLINIC ACID RESPONSIVE SEIZURES - A NEW SYNDROME

Citation
K. Hyland et al., FOLINIC ACID RESPONSIVE SEIZURES - A NEW SYNDROME, Journal of inherited metabolic disease, 18(2), 1995, pp. 177-181
Citations number
4
Categorie Soggetti
Endocrynology & Metabolism
ISSN journal
01418955
Volume
18
Issue
2
Year of publication
1995
Pages
177 - 181
Database
ISI
SICI code
0141-8955(1995)18:2<177:FARS-A>2.0.ZU;2-J
Abstract
During the course of a study to investigate biogenic amine metabolism in neonates and infants with seizure disorders, we have recognized a n ew (neuro)metabolic disease presenting with seizures in the newborn pe riod. The disease is characterized by the presence of a large unidenti fied peak that appears on the chromatographic system used to analyse n eurotransmitter metabolites in CSF, and by the presence of a mild sele ctive aminorachia. In the first case recognized, treatment with folini c acid coincided with complete cessation of seizures within 24 hours.