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5C50.A1 Carbamoylphosphate synthetase deficiency

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Carbamoylphosphate synthetase deficiency
• Carbamylphosphate synthetase deficiency

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