The A report a case of OTC deficit, with mild neurological impairment, and absences. Age of onset and clinical features of absences suggest they would be a casual association, not aetiologlcally related to inborn error of urea cycle. Absences seem to be responsive to VPA, but it is not possible to achieve efficacious plasma level because of appearance of symptoms related to increase of blood ammonia levels. This clinical case offers the opportunity of a review of the AED pharmacokinetics and their relationships with hepatocyte metabolic pathways.
|Translated title of the contribution||Difficult-to-treat absences in a female patient with ornithin-transcarbamylase (OTC) deficit|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Oct 2002|
ASJC Scopus subject areas
- Clinical Neurology