Abstract
Two adult cases with hyperammonemia and recurrent episodes of disturbance of consciousness were reported.
Both cases were 23 year-old men. Physical and histological examination showed no apparent sign of chronic liver diseases. Laboratory examination revelaed high blood ammonia level and low blood urea nitrogen level. In electroencephalogram slow waves were dominant. Portal venography did not reveal a portal-systemic shunt. Ammonia tolerance test was abnormal and urinary excretion of urea decreased. Analysis of serum free amino acids in case 1 showed that citrulline slightly decreased and glutamic acid increased. In case 2 citrulline increased 10 time more than normla value.
These data strongly suggest that case 1 and 2 are belonged to inherited hyperammonemia probably through partial deficiency of ornithine carbamolytransferase and argininosuccinate synthetase respectively.
