重视脂肪酸氧化代谢病的筛查与诊治

Paying attention to screening,diagnosis and treatment of fatty acid oxidation disorders

脂肪酸氧化代谢病(fatty acid oxidation disorders,FAOD)是脂肪酸氧化代谢过程中十余种疾病的总称,均属于常染色体隐性遗传病,是常见的遗传代谢病,从新生儿至成人均可发病,临床表现无特异性,主要表现为肝病、心肌病及肌肉疾病。串联质谱检测血游离肉碱、酰基肉碱水平及基因检测是诊断此类疾病的重要方法。串联质谱新生儿筛查有助于FAOD的早诊断及早治疗。原发性肉碱缺乏症及多种酰基辅酶A脱氢酶缺乏症有特异治疗药物,效果较好,其他疾病无特异药物,需要对症治疗。

Fatty acid oxidation disorders(FAOD)include more than 10 kinds of diseases,they all belong to autosomal recessive diseases and are common inherited metabolic diseases. Onset age of the patients with FAOD are from newborn to adult. The clinical manifestations were nonspecific,mainly manifested as liver disease,cardiomyopathy and muscle diseases. Detection of free carnitine and acylcarnitines in blood by tandem mass spectrometry and detection of gene mutations are important methods for diagnosis of such diseases. Tandem mass screening for neonatal screening is helpful for early diagnosis and early treatment of FAOD. Primary carnitine deficiency and multiple acyl-CoA dehydrogenase deficiency can be treated by specific therapeutic drugs with good effect. There are no specific drugs for other diseases,which need symptomatic treatment.