N-acetyl glutamate synthase (NAGS) deficiency is the rarest urea cycle defect presenting as neonatal onset life-threatening hyperammonemia. We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, one patient benefited from antenatal diagnosis, and from primary care at birth, another one was diagnosed at 2-days and immediately treated with carbaglumic-acid. Finally, we report excellent tolerance to long-term carbaglumic-acid treatment, with no side effects, and healthy neurological and psychomotor development.

中文翻译：

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近交家庭三名婴儿的N-乙酰谷氨酸合酶（NAGS）缺乏症的早期护理。

N-乙酰谷氨酸合酶（NAGS）缺乏症是最罕见的尿素循环缺陷，表现为威胁生命的新生儿高氨血症。我们在此报告了严重的NAGS缺乏症的家族病史：在发生严重高氨血症的指标病例后，一名患者受益于产前诊断，出生时获得了初级保健，另一名患者在2天被诊断出并立即接受了羧甲基酸治疗。最后，我们报道了对长期羧铝酸治疗的极好的耐受性，没有副作用，以及健康的神经和精神运动发育。