Clinical significance of elevated serum citrulline levels in patients with epilepsy

Abstract

Objective To discuss the clinical significance of elevated serum citrulline levels in patients with epilepsy, and to provide new idea for improving the curative effect of antiepileptic drugs (AEDs).  Methods Select 159 child and adolescent patients with cryptogenic epilepsy but without brain structural damage, screen serum concentration of citrulline in these patients by liquid chromatography-tandem mass spectrometry (LC-MS/MS), and perform citrulline metabolism-related gene testing, including SLC25A13 gene and ASS1 gene, in part of those patients with a higher citrulline level, in order to identify the etiology of epilepsy.  Results Among 159 patients, the citrulline levels of 18 cases were searched for 1.53-3.61 times higher than normal, and no causative mutation or novel mutation of SLC25A13 gene and ASS1 gene was found in 6 cases who were performed gene testing. AEDs were given to those 18 patients for at least one year. Seven cases (7/18) were free of clinical seizures, and 3 cases (3/18) had at least 75% reduction in seizure frequency, 3 cases (3/18) 50%-75% reduction in seizure frequency, 5 cases (5/18) seizure reduction below 50% . Compared with 30 cases with normal citrulline level (control group), the efficacy of AEDs in those 18 cases were significantly lower (Z = 1.759, P = 0.039). There was no significant difference between these 2 groups in basic features including sex, onset age, duration of seizure, seizure type, seizure frequency and kind of AEDs.  Conclusions Higher citrulline level (1.53-3.61 times) may lead to a negative effect on the efficacy of AEDs of child and adolescent patients with cryptogenic epilepsy in this study.

doi: 10.3969/j.issn.1672-6731.2014.11.013