脂肪酸氧化(FAO)障碍是影响脂肪酸的运输或氧化的常染色体隐性遗传疾病。在长时间禁食期间出现急性症状,并发感染,或激烈的体力活动。代谢危机的特征是意识的改变,低血糖昏迷,肝肿大,心脏肿大,心律失常,横纹肌溶解症,会导致死亡.在这项回顾性和多中心研究中,收集了54例FAO疾病患者的数据.总的来说,35例(64.8%)在新生儿筛查(NBS)后被诊断出,17例患者的临床表现(31.5%),家庭筛查后2例(3.7%)。确定的缺陷包括中链酰基辅酶A脱氢酶(MCAD)缺陷(75.9%),超长链酰基辅酶A脱氢酶(VLCAD)缺乏症(11.1%),长链羟酰基辅酶A脱氢酶(LCHAD)缺乏症(3.7%),线粒体三功能蛋白(MTP)缺乏症(1.8%),肉碱棕榈酰转移酶2(CPT2)缺乏症(7.4%)。回顾了25例患者的NBS结果,并将该人群的神经系统结局与经临床表现诊断的患者的神经系统结局进行了比较。本文旨在全面概述NBS在比利时南部的实施如何通过预防代谢危机和死亡来显着改善FAO疾病患者的神经系统预后。需要进一步的调查以更好地了解长期并发症的病理生理学,以提高患者的生活质量并确保最佳管理。
Fatty acid oxidation (FAO) disorders are autosomal recessive genetic disorders affecting either the transport or the oxidation of fatty acids. Acute symptoms arise during prolonged fasting, intercurrent infections, or intense physical activity. Metabolic crises are characterized by alteration of consciousness, hypoglycemic coma, hepatomegaly, cardiomegaly, arrhythmias, rhabdomyolysis, and can lead to death. In this retrospective and multicentric study, the data of 54 patients with FAO disorders were collected. Overall, 35 patients (64.8%) were diagnosed after newborn screening (NBS), 17 patients on clinical presentation (31.5%), and two patients after family screening (3.7%). Deficiencies identified included medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (75.9%), very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (11.1%), long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (3.7%), mitochondrial trifunctional protein (MTP) deficiency (1.8%), and carnitine palmitoyltransferase 2 (CPT 2) deficiency (7.4%). The NBS results of 25 patients were reviewed and the neurological outcome of this population was compared with that of the patients who were diagnosed on clinical presentation. This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.