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<p><strong>Objective </strong> 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). <strong> Methods</strong> 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 <em>SLC25A13</em> gene and <em>ASS1</em> gene, in part of those patients with a higher citrulline level, in order to identify the etiology of epilepsy. <strong> Results</strong> 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 <em>SLC25A13</em> gene and <em>ASS1</em> 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 (<em>Z </em>= 1.759, <em>P</em> = 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. <strong> Conclusions</strong> 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.</p><p> </p><p>doi: 10.3969/j.issn.1672-6731.2014.11.013</p>