串联质谱分析先天性甲状腺功能减退症新生儿的氨基酸和酰基肉碱谱。
Tandem Mass Analysis of Amino Acids and Acylcarnitine Profiles in Neonates with Congenital Hypothyroidism.
机构信息
Department of Clinical Biochemistry, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Endocr Metab Immune Disord Drug Targets. 2023;23(5):672-680. doi: 10.2174/1871530322666220816105828.
BACKGROUND
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder. This study aimed to investigate whether disturbances in amino acid metabolism and fatty acid oxidation existed in neonates with CH compared to healthy neonates.
METHODS
In this case-control study, we evaluated the metabolomics of neonates with newly diagnosed CH and healthy neonates. Forty-three metabolites, including 13 amino acids and 30 acylcarnitines, were investigated.
RESULTS
Two hundred neonates with CH and 209 healthy children were enrolled. The mean age of males and females was 4.8 ± 2.4 and 5.52 ± 3.2 days in the case group and 5.1 ± 2.6 and 4.7 ± 3.6 days in the control group, respectively. Of the metabolites, 34 were significantly different between the two groups. Five amino acids and four acylcarnitines did not differ significantly between groups.
CONCLUSION
These findings pave the way for a better understanding of the relationship between alterations and the clinical manifestation of CH, which has the potential for identifying novel therapeutics.
背景
先天性甲状腺功能减退症（CH）是最常见的新生儿内分泌疾病。本研究旨在探讨与健康新生儿相比，CH 新生儿是否存在氨基酸代谢和脂肪酸氧化紊乱。
方法
在这项病例对照研究中，我们评估了新诊断为 CH 的新生儿和健康新生儿的代谢组学。共检测了 43 种代谢物，包括 13 种氨基酸和 30 种酰基肉碱。
结果
共纳入 200 例 CH 新生儿和 209 例健康儿童。病例组中男性和女性的平均年龄为 4.8±2.4 天和 5.52±3.2 天，对照组分别为 5.1±2.6 天和 4.7±3.6 天。在这些代谢物中，有 34 种在两组间有显著差异。5 种氨基酸和 4 种酰基肉碱在两组间无显著差异。
结论
这些发现为更好地理解 CH 临床表现的改变与之间的关系铺平了道路，这有可能为确定新的治疗方法提供依据。
Zotero 插件