Department of Paediatrics, National University of Singapore, National University Hospital, 5 Lower Kent Ridge Road, Singapore 119074.
Ann Acad Med Singap. 2008 Dec;37(12 Suppl):74-3.
Fatty acid oxidation defects (FAODs) are a group of inborn errors of metabolism that carry a risk for morbidity and mortality. Successful management of these conditions involves early diagnosis, proper management of clinical situations that predisposes to metabolic crisis as well as adequate treatment of a metabolic crisis. The advent of tandem mass spectrometry based newborn screening has reduced the morbidity and mortality in some FAODs. This article discusses how to recognise FAODs and how to manage them.
脂肪酸氧化缺陷（FAODs）是一组具有发病和死亡风险的先天性代谢缺陷。成功管理这些疾病需要早期诊断、妥善处理可能导致代谢危机的临床情况以及充分治疗代谢危机。基于串联质谱的新生儿筛查的出现降低了一些 FAOD 的发病率和死亡率。本文讨论了如何识别 FAOD 以及如何管理它们。
