The mammalian urea cycle (UC) is responsible for siphoning catabolic waste nitrogen into urea for excretion. Disruptions of the functions of any of the enzymes or transporters lead to elevated ammonia and neurological injury. Carbamoyl phosphate synthetase 1 (CPS1) is the first and rate-limiting UC enzyme responsible for the direct incorporation of ammonia into UC intermediates. Symptoms in CPS1 deficiency are typically the most severe of all UC disorders, and current clinical management is insufficient to prevent the associated morbidities and high mortality. With recent advances in basic and translational studies of CPS1, appreciation for this enzyme's essential role in the UC has been broadened to include systemic metabolic regulation during homeostasis and disease. Here, we review recent advances in CPS1 biology and contextualize them around the role of CPS1 in health and disease.

哺乳动物尿素循环 (UC) 负责将分解代谢的废物氮虹吸成尿素进行排泄。任何酶或转运蛋白的功能中断都会导致氨升高和神经损伤。氨基甲酰磷酸合成酶 1 (CPS1) 是第一个限速 UC 酶，负责将氨直接掺入 UC 中间体。CPS1 缺乏症的症状通常是所有 UC 疾病中最严重的，目前的临床管理不足以预防相关的发病率和高死亡率。随着 CPS1 基础和转化研究的最新进展，对该酶在 UC 中的重要作用的认识已扩大到包括体内平衡和疾病期间的全身代谢调节。这里，