All
Term | Definition |
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Carbamyl phosphate synthetase deficiency |
Also called CPS1 deficiency. A urea cycle disorder resulting from an enzyme deficiency of carbamyl phosphate synthetase. Caused by a mutation in the CPS1 gene. |
Term | Definition |
---|---|
Carbamyl phosphate synthetase deficiency |
Also called CPS1 deficiency. A urea cycle disorder resulting from an enzyme deficiency of carbamyl phosphate synthetase. Caused by a mutation in the CPS1 gene. |