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Carbamyl Phosphate Synthetase Deficiency
Condition Overview: Carbamyl phosphate synthetase (CPS) deficiency is a rare inherited disorder caused by lack or deficiency of the enzyme carbamyl phosphate synthetase, one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma. CPS deficiency is inherited as an autosomal recessive traitThe urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood. . |
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