以脂肪肝为临床表现的脂肪酸氧化代谢病

Fatty acid oxidation disorders presented as fatty liver

脂肪酸氧化代谢性病(FAODs)是一组临床和生化均呈异质性疾病,其症状和体征轻重不等,可表现为乏力、肝大、脂肪肝、肌病、心肌病、脑病,甚至猝死。病理机制为继发于酶缺陷所致的能量供应不足,以及脂质和有毒代谢产物的蓄积。治疗包括肉碱补充,疾病特异性底物替代,以及能量供给。文章介绍以脂肪肝为临床表现的脂肪酸氧化代谢病,重点讲述原发肉碱缺乏症(PCD)和多种酰基辅酶A脱氢酶缺乏症(MADD)。早期干预、做好患者教育和随访,对于防止发病及猝死至关重要。

Fatty acid oxidation disorders(FAODs)are a group of clinically and biochemically heterogeneous disorders.The clinical spectrum of signs and symptoms ranges from mild to severe,including fatigue,hepatomegaly,fatty liver,myopathy,cardiomyopathy,encephalopathy,and sudden death.The pathological background for the clinical problems includes inadequate energy supply secondary to the enzymatic dificiency,and accumulation of lipid and toxic metabolites.Various therapeutic approaches have been tried,including carnitine supplementation,substitution of disease-specific energy substrates,and supply of adequate energy.This paper introduces the major types of FAODs which usually presents as fatty liver.Emphasis will be on primary carnitine deficiency(PCD)and multiple acyl-coenzyme A dehydrogenase deficiency(MADD).Early intervention,ongoing follow-up and education of the patient are important to prevent disease morbidity and sudden death.