Disorders of the urea cycle and related enzymes

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Abstract

Six inherited enzyme defects of the urea cycle are known. These are the deficiencies of carbamoylphosphate synthetase (CPS), ornithine transcarbamoylase (OTC), argininosuccinate synthetase (ASS), argininosuccinate lyase (ASL), arginase and N-acetylglutamate synthetase (NAGS).

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Wijburg, F. A., & Nassogne, M. C. (2012). Disorders of the urea cycle and related enzymes. In Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 297–310). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_20

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