Pediatrics, University of Washington, Seattle, WA, USA.
Children's National Hospital, Washington, DC, USA.
Rev Endocr Metab Disord. 2020 Dec;21(4):479-493. doi: 10.1007/s11154-020-09568-3.
Fatty acid oxidation disorders (FAOD) are a group of rare, autosomal recessive, metabolic disorders caused by variants of the genes for the enzymes and proteins involved in the transport and metabolism of fatty acids in the mitochondria. Those affected by FAOD are unable to convert fatty acids into tricarboxylic acid cycle intermediates such as acetyl-coenzyme A, resulting in decreased adenosine triphosphate and glucose for use as energy in a variety of high-energy-requiring organ systems. Signs and symptoms may manifest in infants but often also appear in adolescents or adults during times of increased metabolic demand, such as fasting, physiologic stress, and prolonged exercise. Patients with FAOD present with a highly heterogeneous clinical spectrum. The most common clinical presentations include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy, rhabdomyolysis, and skeletal myopathy, as well as peripheral neuropathy and retinopathy in some subtypes. Despite efforts to detect FAOD through newborn screening and manage patients early, symptom onset can be sudden and serious, even resulting in death. Therefore, it is critical to identify quickly and accurately the key signs and symptoms of patients with FAOD to manage metabolic decompensations and prevent serious comorbidities.
脂肪酸氧化障碍（FAOD）是一组罕见的常染色体隐性遗传代谢疾病，由线粒体中参与脂肪酸转运和代谢的酶和蛋白基因的变异引起。FAOD 患者无法将脂肪酸转化为三羧酸循环中间产物，如乙酰辅酶 A，导致用于各种高能量需求器官系统的三磷酸腺苷和葡萄糖减少。这些症状和体征可能在婴儿期表现出来，但也经常在青少年或成年人中出现，尤其是在代谢需求增加的时候，如禁食、生理应激和长时间运动时。FAOD 患者的临床表现高度异质。最常见的临床表现包括低酮性低血糖、肝功能障碍、心肌病、横纹肌溶解症和骨骼肌病，以及某些亚型的周围神经病和视网膜病变。尽管通过新生儿筛查努力检测 FAOD 并尽早管理患者，但症状发作可能突然且严重，甚至导致死亡。因此，快速准确地识别 FAOD 患者的关键体征和症状以管理代谢失代偿和预防严重并发症至关重要。
