ACIDEMIA GLUTARICA DI TIPO II ED ENCEFALOPATIA EPILETTICA

Translated title of the contribution: Glutaric aciduria type II and epileptic encephalopathy

A. Romeo, E. Parini, M. Viri, P. Vizziello, F. Viani

Research output: Contribution to journalArticle

Abstract

We report a new case of neonatal onset ETF deficiency (GA2) with long survival (present age 4 yrs, 7 mos), good physical growth, hypotonia, psychomotor delay and severe epilepsy, consisting of therapy-resistant infantile spasms. To our knowledge, this is the first report of epilepsy in a case of GA II. We suggest that this case could be a new clinical phenotype of this metabolic disease.

Translated title of the contributionGlutaric aciduria type II and epileptic encephalopathy
Original languageItalian
Pages (from-to)273-274
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number86-87
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Clinical Neurology

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