极长链酰基辅酶A脱氢酶缺乏症筛诊治专家共识

Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency

极长链酰基辅酶A脱氢酶(VLCAD)缺乏症是一种长链脂肪酸氧化代谢障碍性疾病,临床表现有明显异质性,新生儿到成年均可发病,以心脏、肝脏、骨骼肌及脑损害为主。其中,心肌病型较为凶险,病死率高;肝病型和肌病型预后相对较好,但具有潜在致死性;反复发作的低血糖、能量代谢障碍、肝功能损害、心肌病或严重心律失常是导致患者死亡的主要原因。通过新生儿筛查可以早期发现绝大多数患者,及早诊治者预后良好。本共识旨在规范VLCAD缺乏症的筛查、诊断及治疗管理,以改善患者预后,减少患者死亡和残障。

Very long-chain acyl-CoA dehydrogenase(VLCAD) deficiency is a metabolic disease of long chain fatty acid oxidation.The clinical manifestations are heterogeneous,mainly with heart,liver,skeletal muscle and brain damage,and the onset of which can be from newborn to adult.Cardiomyopathy type is more serious with high mortality.The liver failure type and myopathy type would be potentially lethal,but generally the prognosis is relatively good.Recurrent hypoglycemia,energy metabolism disorder,liver dysfunction,cardiomyopathy and serious arrhythmia are the main causes of death.Most patients can be identified through neonatal screening,and the prognosis is usually good in patients with early diagnosis and treatment.The purpose of this consensus is to standardize the diagnosis,treatment and management of VLCAD deficiency,so as to improve the prognosis of patients and reduce death and disability.