Ruiz-Sala Pedro, Peña-Quintana Luis
Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain.
Pediatric Gastroenterology, Hepatology and Nutrition Unit, Mother and Child Insular University Hospital Complex, Asociación Canaria para la Investigación Pediátrica (ACIP), CIBEROBN, University Institute for Research in Biomedical and Health Sciences, University of Las Palmas de Gran Canaria, 35016 Las Palmas de Gran Canaria, Spain.
J Clin Med. 2021 Oct 22;10(21):4855. doi: 10.3390/jcm10214855.
Mitochondrial fatty acid β-oxidation (FAO) contributes a large proportion to the body's energy needs in fasting and in situations of metabolic stress. Most tissues use energy from fatty acids, particularly the heart, skeletal muscle and the liver. In the brain, ketone bodies formed from FAO in the liver are used as the main source of energy. The mitochondrial fatty acid oxidation disorders (FAODs), which include the carnitine system defects, constitute a group of diseases with several types and subtypes and with variable clinical spectrum and prognosis, from paucisymptomatic cases to more severe affectations, with a 5% rate of sudden death in childhood, and with fasting hypoketotic hypoglycemia frequently occurring. The implementation of newborn screening programs has resulted in new challenges in diagnosis, with the detection of new phenotypes as well as carriers and false positive cases. In this article, a review of the biochemical markers used for the diagnosis of FAODs is presented. The analysis of acylcarnitines by MS/MS contributes to improving the biochemical diagnosis, both in affected patients and in newborn screening, but acylglycines, organic acids, and other metabolites are also reported. Moreover, this review recommends caution, and outlines the differences in the interpretation of the biomarkers depending on age, clinical situation and types of samples or techniques.
线粒体脂肪酸β-氧化（FAO）在禁食和代谢应激情况下，对身体的能量需求贡献很大比例。大多数组织利用脂肪酸提供能量，尤其是心脏、骨骼肌和肝脏。在大脑中，肝脏中由FAO形成的酮体用作主要能量来源。线粒体脂肪酸氧化障碍（FAODs），包括肉碱系统缺陷，是一组具有多种类型和亚型的疾病，临床谱和预后各不相同，从症状轻微的病例到更严重的病症，儿童期猝死率为5%，且经常发生禁食性低酮性低血糖。新生儿筛查项目的实施给诊断带来了新挑战，出现了新的表型以及携带者和假阳性病例的检测。本文对用于诊断FAODs的生化标志物进行综述。通过串联质谱（MS/MS）分析酰基肉碱有助于改善对受影响患者和新生儿筛查的生化诊断，但也报道了酰基甘氨酸、有机酸和其他代谢物。此外，本综述建议谨慎行事，并概述了根据年龄、临床情况以及样本或技术类型对生物标志物解读的差异。
