It is possible that the primary title of the record Carbamoyl Phosphate Synthetase I Shortage is not the name you expected. Please examine the words noting to locate the alternating name(s) and problem community(s) covered by this record.
- CPSI deficiency
- carbamoyl phosphate synthetase shortage
- carbamylphosphatase shortage I
- carbamyl phosphate synthetase I
- carbamoylphosphatase shortage I
Carbamoyl phosphate synthetase I deficiency (CPSID) is an unusual inherited condition characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is among 5 enzymes that contribute in the break down and removal of nitrogen from the body, a process known as the urea pattern. The absence of the CPSI enzyme leads to excessive build-up of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Damaged children might experience throwing up, rejection to consume, dynamic sleepiness, and coma. CPSID is acquired as an autosomal recessive genetic disorder.
The urea pattern problems are a group of uncommon disorders influencing the urea cycle, a series of biochemical processes in which nitrogen is converted right into urea as well as eliminated from the physical body through the pee. Nitrogen is a waste item of healthy protein metabolism. Failing to break down nitrogen cause the unusual accumulation of nitrogen, in the form of ammonia, in the blood.