Abstract
A two-year-old girl with partial ornithine transcarbamylase deficiency (OTCD) was presented. From two years old and two months of age, she showed recurrent vomiting once a week, and gradually developed episodes of recurrent vomiting accompanied by somnolence. During these episodes the values of serum ammonia were elevated up to 646μg/dl, and subsequently transaminase levels were elevated up to 1, 032 IU/l with the decrease of ammonia. During these episodes EEG showed characteristic sinusoidal 2-2.5 c/s HVS bursts. This HVS disappeared several days later following improvements of symptoms and hyperammonemia. The importance of electroencephalographic study in patients with OTCD was emphasized.
