Ferreira Carlos R, van Karnebeek Clara D M
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.
Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Handb Clin Neurol. 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9.
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway. Given their frequency and potential for treatment, the clinician should be aware of this group of conditions and learn to identify the typical manifestations of the different inborn errors of metabolism. In this review, we summarize the clinical, laboratory, electrophysiologic, and neuroimaging findings of the different inborn errors of metabolism that can present with florid neurologic signs and symptoms in the neonatal period.
先天性代谢缺陷，也称为遗传性代谢疾病，是新生儿中出现神经体征的一组重要病症。它们单个病例罕见，但总体上较为常见。许多疾病可通过恢复中断的代谢途径的内环境稳定来治疗。鉴于其发病率和治疗潜力，临床医生应了解这组病症，并学会识别不同先天性代谢缺陷的典型表现。在本综述中，我们总结了在新生儿期可出现明显神经体征和症状的不同先天性代谢缺陷的临床、实验室、电生理和神经影像学表现。
