Electroencephalographic findings in urea-cycle disorders.
Eleven electroencephalograms in 4 infants with urea-cycle disorders were reviewed. All infants had one or more abnormal EEGs. The abnormalities consisted mainly of multiareal spikes, spike-waves, or sharp-and-slow-wave activity. In addition, one patient, a term infant, exhibited exaggerated spindle-delta bursts. This infant, and also one other at a similar age, had monorhythmic paroxysmal theta activity. Clinically, all patients had seizures shortly preceding abnormal EEGs. EEG alterations were encountered over a wide range of elevated serum ammonia levels. Normal EEGs occurred in the face of slightly elevated levels. It is concluded that epileptiform EEG alterations may be a characteristic manifestation of urea-cycle disorders.
D000592:Amino Acid Metabolism, Inborn Errors / Q000503:physiopathology*; D000641:Ammonia / Q000097:blood; D056807:Argininosuccinic Aciduria; D001921:Brain / Q000503:physiopathology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008190:Lyases / Q000172:deficiency*; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia; D008190:Lyases