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.

中文翻译：

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新生儿脂肪酸氧化障碍筛查对神经系统结果的影响：比利时回顾性多中心研究

脂肪酸氧化 (FAO) 疾病是影响脂肪酸运输或氧化的常染色体隐性遗传疾病。长期禁食、并发感染或剧烈体力活动时会出现急性症状。代谢危机的特征是意识改变、低血糖昏迷、肝肿大、心脏扩大、心律失常、横纹肌溶解，并可能导致死亡。在这项回顾性多中心研究中，收集了 54 名FAO 疾病患者的数据。总体而言，35 名患者（64.8%）是在新生儿筛查（NBS）后确诊的，17 名患者是根据临床表现确诊的（31.5%），2 名患者是在家庭筛查后确诊的（3.7%）。发现的缺陷包括中链酰基辅酶A脱氢酶（MCAD）缺陷（75.9%）、极长链酰基辅酶A脱氢酶（VLCAD）缺陷（11.1%）、长链羟酰基辅酶A脱氢酶（LCHAD）缺陷（3.7%） ）、线粒体三功能蛋白（MTP）缺乏（1.8%）和肉碱棕榈酰转移酶 2（CPT 2）缺乏（7.4%）。回顾了 25 名患者的 NBS 结果，并将该人群的神经学结果与临床表现诊断的患者进行了比较。本文旨在全面概述比利时南部 NBS 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结果。需要进一步研究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。