Department of Inherited Metabolic Diseases, Regional Training and Research Hospital, Erzurum, Türkiye.
Department of Neonatology, Regional Training and Research Hospital, Erzurum, Türkiye.
J Pediatr Endocrinol Metab. 2024 Aug 19;37(10):924-929. doi: 10.1515/jpem-2024-0240. Print 2024 Oct 28.
Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder with an estimated prevalence of one in 150,000-200,000 live births. Patients often present with hyperammonemia shortly after protein feeding in the early days of life, and early-onset type is associated with high mortality rate.
We present here a case of a newborn male with a history of two deceased siblings whose ammonium level exceeded 200 μmol/L on the first day after birth, and who was started on dextrose infusion and ammonia-scavenging therapy after oral feeding was discontinued. Peritoneal dialysis was initiated after the patient's ammonia level exceeded 500 μmol/L. At the age of five months, the patient underwent hemodialysis due to elevated ammonia levels accompanied by lethargy. The patient's ammonia levels were successfully brought under control, and the patient underwent a liver transplantation at the age of six month, donated by the father.
We present this case to emphasize the efficacy of liver transplantation from a parent carrying a CPS-1 deficiency. The authors believe that, with further support from future studies, the use of carglumic acid can improve the prognosis in the chronic management of CPS-1 deficiency.
氨甲酰磷酸合成酶 1（CPS-1）缺乏症是一种罕见的尿素循环障碍，估计每 15 万至 20 万例活产中就有一例。患者常在生命早期开始进食蛋白质后不久出现高氨血症，早发型与高死亡率相关。
我们在此介绍一例新生儿男性，其有两名已故兄弟姐妹，该患儿出生后第一天的血氨水平超过 200μmol/L，在停止口服喂养后，开始给予葡萄糖输注和氨清除治疗。在患儿血氨水平超过 500μmol/L 后，开始进行腹膜透析。在五个月大时，由于出现嗜睡等症状，同时伴有高氨血症，患儿开始行血液透析。患儿的血氨水平得到有效控制，在六个月大时，患儿接受了来自父亲的肝脏移植。
我们提出这个病例是为了强调从携带 CPS-1 缺乏症的父母那里进行肝脏移植的疗效。作者认为，随着未来研究的进一步支持，使用卡谷氨酸可以改善 CPS-1 缺乏症慢性管理的预后。
