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Keywords: Urea cycle disorders, UCD, Hyperammonemia, N-acetylglutamate synthase, Carbamoylphosphate synthetase 1, Ornithine transcarbamylase, Ornithine carbamoyl transferase, Argininosuccinate synthetase, Argininosuccinate lyase, Arginase 1, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Introduction Urea cycle disorders (UCDs) are inborn errors of nitrogen detoxification/arginine synthesis due to defects in the urea cycle enzymes (Figure 1), carbamoylphosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS), argininosuccinate lyase (ASL) and arginase 1 (ARG1), leading to respective deficiencies (abbreviated CPS1D, OTCD, ASSD, ASLD and ARG1D

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