Carbamoyl-phosphate synthase 1 deficiency: 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. More detailed information about the symptoms, causes, and treatments of Carbamoyl-phosphate synthase 1 deficiency is available below.
See full list of 15 symptoms of Carbamoyl-phosphate synthase 1 deficiency
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Types of Carbamoyl-phosphate synthase 1 deficiency
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