Department of Obstetrics and Gynecology, Tampere University Hospital, Tampere, Finland.
Acta Obstet Gynecol Scand. 2010 Mar;89(3):404-6. doi: 10.3109/00016340903540646.
Deficiencies of urea cycle enzymes are rare metabolic disorders. Inadequate function of these enzymes may in worst cases lead to hyperammonemic encephalopathy and death. The danger of urea cycle enzyme deficiencies is that previously healthy adults with no prior medical history suggesting these deficiencies may suddenly develop life-threatening complications during prolonged catabolic situations such as delivery or surgery. Since most of the metabolic disorders are diagnosed during childhood, it may sometimes be difficult to bear in mind these rare diseases as a cause of unconsciousness in adulthood. However, early diagnosis and prompt initiation of ammonia-lowering treatment are essential for survival of these patients. We present two pregnant women with urea cycle disorders: one with a known deficiency and an uncomplicated outcome, and another with a previously undiagnosed disorder and life-threatening course of the postpartum period.
尿素循环酶缺乏症是罕见的代谢紊乱疾病。这些酶功能不足，在最坏的情况下可能导致高氨血症性脑病和死亡。尿素循环酶缺乏症的危险之处在于，以前健康、没有任何先前病史提示这些缺乏症的成年人，可能会在分娩或手术等长时间分解代谢情况下突然出现危及生命的并发症。由于大多数代谢紊乱疾病在儿童期诊断，因此有时可能难以记住这些罕见疾病是导致成年期无意识的原因。然而，早期诊断和及时开始降低氨治疗对于这些患者的生存至关重要。我们介绍了两名患有尿素循环障碍的孕妇：一名患有已知缺陷且结局无并发症，另一名患有先前未诊断出的疾病，产后期间病情危及生命。
