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.