Carbamoylphosphate synthetase deficiency (Q40018)
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Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.A1 |
||
| English | Carbamoylphosphate synthetase deficiency |
Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis. |
