Zharmakhanova G, Syrlybayeva L, Nurbaulina E, Baikadamova L, Eshtayeva G
department of molecular biology and medical genetics, Kazakhstan.
Georgian Med News. 2020 Jun(303):161-167.
The review summarizes the current knowledge about inborn errors of fatty acid metabolism (disorders of carnitine transport and mitochondrial fatty acid oxidation), characterized by high mortality, predominant damage of the central nervous system, heart, liver and skeletal muscles. The article presents the main clinical genetic features of diseases this group. After the introduction of newborn screening using the tandem mass-spectrometry (MS/MS), early identification of fatty acid metabolism defects became possible. Using of MS/MS method is promising for mass newborn screening. Early identification and accordingly timely initiated treatment prevents unfavorable outcome. Moreover, a specified medical-genetic diagnosis allows further prenatal diagnosis of pathology in subsequent pregnancies.
这篇综述总结了目前关于脂肪酸代谢先天性缺陷（肉碱转运和线粒体脂肪酸氧化障碍）的知识，其特点是高死亡率、主要损害中枢神经系统、心脏、肝脏和骨骼肌。本文介绍了该组疾病的主要临床遗传特征。在采用串联质谱法（MS/MS）进行新生儿筛查后，脂肪酸代谢缺陷的早期识别成为可能。MS/MS方法用于大规模新生儿筛查很有前景。早期识别并及时开始治疗可防止不良后果。此外，明确的医学遗传学诊断有助于在后续妊娠中进一步进行病理学的产前诊断。
