新生儿筛查和新生儿体重减轻中酰基肉碱短暂升高婴儿的特征性表现。

IF 4 Q1 GENETICS & HEREDITY
Sakura Morishima, Yumi Shimada, Yoriko Watanabe, Kenji Ihara
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引用次数: 0

摘要

新生儿筛查时检测到长链酰基肉碱水平升高,特别是C14:1和C14:1/C2比值,可能提示超长链酰基辅酶a脱氢酶缺乏症(VLCADD),尽管产后饥饿也可能导致类似的结果。我们调查了假阳性结果、产后体重减轻和随后的生长之间的关系。此外,我们还探讨了产后饥饿的潜在诊断指标。本研究纳入了2014年4月至2024年3月来自大分县的以下新生儿:VLCADD假阳性患者(n = 19), VLCADD患者(n = 3),以及完成3岁健康检查的大规模筛查阴性儿童(n = 30)。假阳性组在新生儿筛查的血液取样中表现出明显的体重减轻。一项酰基肉碱分析显示,假阳性组中各种短链到长链脂肪酸显著增加,可能是由于通过β-氧化的脂肪酸分解代谢增强。大量脂肪酸的升高和氨基酸水平的降低似乎与血液取样中体重的显著下降有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss.

The detection of elevated long-chain acylcarnitine levels, particularly C14:1 and the C14:1/C2 ratio, during neonatal screening may indicate very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD), although similar findings can result from postnatal starvation. We investigated the relationship between false-positive results, postnatal weight loss, and subsequent growth. Additionally, we explored potential diagnostic markers of postnatal starvation. The following neonates from Oita Prefecture (April 2014-March 2024) were included in this study: patients identified as false-positive for VLCADD (n = 19), patients with VLCADD (n = 3), and children negative in mass screening who completed their 3-year-old health check-up (n = 30). The false-positive group exhibited significant weight loss at blood sampling for neonatal screening. An acylcarnitine analysis showed significant increases in various short- to long-chain fatty acids in the false-positive group, likely owing to enhanced fatty acid catabolism via β-oxidation. Elevation of a broad range of fatty acids and reduced amino acid levels seemed to be associated with significant weight loss at blood sampling.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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