Tags: Disease.
Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the enzyme carbamoyl phosphate synthetase I. Ammonia which is formed when proteins are broken down in the body is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
