Carbamyl-phosphate synthetase I deficiency disease (medical condition)

A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated. See also Carbamoyl-phosphate synthase 1 deficiency

Chemwatch
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