Stability of amino acids, free and acyl-carnitine in stored dried blood spots.
Stability of amino acids, free and acyl-carnitine in stored dried blood spots.
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DOI：
10.1111/ped.15072
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发表时间：
2022-01
影响因子：
1.4
通讯作者：
Ihara, Kenji
中科院分区：
文献类型：
--
作者：
Shimada, Yumi;Kawano, Nanae;Goto, Miho;Watanabe, Hiromi;Ihara, Kenji
关键词：
在许多发达国家，利用串联质谱技术对新生儿进行先天性代谢缺陷筛查已成为一项公共卫生策略。使用储存的干燥血液标本进行的回顾性分析有限，主要是由于缺乏储存标本中酰基肉毒碱和氨基酸长期稳定性的生化信息。我们研究了新生儿筛查后储存在冰箱中的干燥血液标本中氨基酸、游离肉毒碱和酰基肉毒碱的稳定性特征。来自198名健康新生儿的干燥血液样本，在新生儿筛查后储存在5 °C的冰箱中，在储存1、3、6个月、1和2年后前瞻性地进行串联质谱分析。我们还回顾性地重新分析了90名新生儿的储存样本，这些样本已在5 °C下分析并储存了4年。我们发现，脯氨酸（Pro）和酪氨酸（Tyr）是稳定的2年，丙氨酸（Ala），精氨酸（Arg）和苯丙氨酸（Phe）衰减线性回归。在2年的时间过程中，C0增加，而大多数酰基肉毒碱逐渐衰减，有些呈线性相关。对保存4年的样品进行回顾性分析，发现Ala、Phe、Pro和Tyr基本稳定，亮氨酸（Leu）、缬氨酸（瓦尔）呈线性回归衰减，C0增加，C10、C12、C14、C14：1、C16、C18、C18：1下降，但保持线性相关。这些数据表明，冷藏干燥血液标本的一些代谢参数适用于检测先天性代谢缺陷。
Newborn screening of inborn errors of metabolism using tandem mass spectrometry has become a public health strategy in many developed countries. Retrospective analyses using stored dried blood specimens have been limited, mainly due to a lack of biochemical information on the long‐term stability of acylcarnitines and amino acids in stored specimens. We studied the characteristic profiles of the stability of amino acid, free carnitine, and acyl carnitines in dried blood specimens stored in a refrigerator after newborn screening. Dried blood specimens from 198 healthy newborns, which had been stored in a refrigerator at 5 °C after newborn screening, were prospectively subjected to tandem mass spectrometry analyses after 1, 3, 6 months, 1 and 2 years of storage. We also retrospectively re‐analyzed the stored samples from 90 newborns, which had been analyzed and stored at 5 °C for 4 years. We found that proline (Pro) and tyrosine (Tyr) were stable for 2 years, and that alanine (Ala), arginine (Arg), and phenylalanine (Phe) decayed with linear regression. The C0 increased during the time‐course of 2 years, whereas most acylcarnitines gradually decayed and some showed a linear correlation. The retrospective analysis of samples stored for 4 years revealed that Ala, Phe, Pro and Tyr were almost stable, leucine (Leu), valine (Val) decayed with linear regression, C0 increased, and C10, C12, C14, C14:1, C16, C18, C18:1 decreased, while maintaining a linear correlation. These data suggested that some metabolic parameters from refrigerator‐stored dried blood specimens were applicable for the detection of inborn errors of metabolism.
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影响因子：
158.5
作者：
Wilcken, B;Wiley, V;Carpenter, K
通讯作者：
Carpenter, K
影响因子：
8
作者：
Burton, BK
通讯作者：
Burton, BK
影响因子：
1.8
作者：
Prentice, Philippa;Turner, Charles;Dalton, R. Neil
通讯作者：
Dalton, R. Neil
影响因子：
2.8
作者：
Adam, B. W.;Hall, E. M.;Hannon, W. H.
通讯作者：
Hannon, W. H.
影响因子：
3.7
作者：
Magoulas PL;El-Hattab AW
通讯作者：
El-Hattab AW