Neurology, Children's National, Washington DC, USA.
Neurogenetics and Neurodevelopmental Pediatrics, Children's National, Washington DC, USA.
Yale J Biol Med. 2021 Dec 29;94(4):645-655. eCollection 2021 Dec.
Inborn errors of metabolism (IEM) are a unique class of genetic diseases due to mutations in genes involved in key metabolic pathways. The combined incidence of IEM has been estimated to be as high as 1:1000. Urea Cycle disorders (UCD), one class of IEM, can present with cerebral edema and represent a possible target to explore the utility of different neuromonitoring techniques during an hyperammonemic crisis. The last two decades have brought advances in the early identification and comprehensive management of UCD, including further understanding of neuroimaging patterns associated with neurocognitive function. Nonetheless, very important questions remain about the potential acute neurotoxic effects of hyperammonemia to better understand how to treat and prevent secondary brain injury. In this review, we describe existing neuromonitoring techniques that have been used in rare metabolic disorders to assess and allow amelioration of ongoing brain injury. Directions of future research should be focused on identifying new diagnostic approaches in the management of metabolic crises to optimize care and reduce long term morbidity and mortality in patients with IEM.
先天性代谢缺陷（IEM）是一类由于涉及关键代谢途径的基因突变而导致的独特的遗传性疾病。IEM 的总发病率估计高达 1:1000。尿素循环障碍（UCD）是 IEM 的一种，可导致脑水肿，并可能成为探索不同神经监测技术在高氨血症危象期间应用的潜在目标。过去二十年中，UCD 的早期识别和综合管理取得了进展，包括对与神经认知功能相关的神经影像学模式有了更深入的了解。尽管如此，关于高氨血症的潜在急性神经毒性作用仍存在非常重要的问题，以便更好地了解如何治疗和预防继发性脑损伤。在这篇综述中，我们描述了已在罕见代谢疾病中使用的现有神经监测技术，以评估和改善正在进行的脑损伤。未来的研究方向应集中在确定代谢危机管理中的新诊断方法上，以优化患有 IEM 的患者的护理并降低其长期发病率和死亡率。
