| carbamoyl phosphate synthetase |
1. carbamoyl-phosphate synthase (ammonia); called also carbamoyl phosphate synthetase I (CPSI). 2. carbamoyl-phosphate synthase (glutamine-hydrolyzing); called also carbamoyl phosphate synthetase II (CPSII).
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| carbamoyl phosphate synthetase deficiency |
a genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without oroticaciduria, protein intolerance, and neurologic disorders. Symptoms may begin in the neonatal period or appear later in infancy, with varying degrees of severity. Written also carbamoyl phosphate synthetase I (CPSI) deficiency.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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