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- W13202634 abstract "Publisher Summary This chapter discusses citrullinemia and arginosuccinicaciduria. They represent two metabolic disorders resulting from enzymatic impairment in steps 3 and 4 of the urea cycle. Deficiency in arginosuccinic acid synthetase causes a metabolic disorder characterized by a markedly elevated plasma citrulline level and an elevated plasma ammonia concentration without acidosis. An infant with arginosuccinicaciduria, as with citrullinemia, is normal at birth and then exhibits symptoms 24–48 hours after birth. In approximately one-half of patients with the subacute or late-onset form of arginosuccinicaciduria, a type of abnormal hair, trichorrhexis nodosa, is seen. Treatment of citrullinemia and arginosuccinicaciduria, as with other urea cycle disorders, consists of prevention of hyperammonemic events, and treatment of episodic hyperammonemia and acute hyperammonemic coma. Prognosis, especially in the neonatal form of the urea cycle disorders, has been extremely poor." @default.
- W13202634 created "2016-06-24" @default.
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- W13202634 date "1987-01-01" @default.
- W13202634 modified "2023-09-27" @default.
- W13202634 title "Citrullinemia and Arginosuccinicaciduria" @default.
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- W13202634 doi "https://doi.org/10.1016/b978-0-409-90018-7.50021-9" @default.
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