新生儿脂肪酸β氧化障碍的临床、生化和分子特征:ACADM、ACADVL和SLC22A5基因的新变异

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Irene Hidalgo Mayoral, Amanda Herranz Cecilia, Carmen Rodríguez-Jiménez, Ana Carazo Álvarez, Ana Bergua Martínez, José David Andrade Guerrero, Ana Moráis López, Sonia Rodríguez-Nóvoa
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引用次数: 0

摘要

在这项研究中,我们旨在评估临床疑似系统性原发性肉毒碱缺乏症(CUD)、中链酰基辅酶a脱氢酶缺乏症(MCADD)和甚长链酰基辅酶a脱氢酶缺乏症(VLCADD)新生儿的临床、实验室和分子特征。脂肪酸β氧化障碍(FAODs)新生儿筛查项目的实施改变了这些疾病的自然进程,促进了对出生后不久受影响的新生儿的预防或治疗措施的启动。本研究纳入2016年至2023年间因CUD、MCADD和VLCADD生化征象入院的94例新生儿,提供临床、生化和基因型数据。最终分子诊断证实16/94(17%)新生儿为NBS真阳性,并在SLC22A5、ACADM和ACADVL基因中检测到17个新的变异。我们评估了患者随时间的临床演变。本研究扩展了SLC22A5、ACADM和ACADVL的基因型谱,强调了遗传学在识别和正确表征faod中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 Genes.

In this study, we aimed to assess clinical, laboratory and molecular features of newborns with clinical suspicion for systemic primary carnitine deficiency (CUD), medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). The implementation of newborn screening programs for fatty acid β-oxidation disorders (FAODs) has changed the natural course of these diseases, facilitating the initiation of preventive or therapeutic measures for affected newborns shortly after birth. This study included 94 newborns who were admitted between 2016 and 2023 because of biochemical signs of CUD, MCADD and VLCADD, and provided clinical, biochemical and genotypic data. Definitive molecular diagnosis confirmed that 16/94 newborns (17%) were true positives of the NBS, and 17 novel variants were detected in SLC22A5, ACADM and ACADVL genes. We assessed the clinical evolution of patients over time. This study expands the genotypic spectrum of SLC22A5, ACADM and ACADVL and highlights the role of genetics in identifying and correctly characterising FAODs.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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