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通过新生儿查检测减少细胞内B12活动的好处仍然不清楚

Stella Knöpfli¹, Bernadette Goeschl², Maximilian Zeyda²

¹Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.

International journal of neonatal screening

|June 26, 2024

概括

新生儿对维生素B12缺乏 (B12D) 的查可以识别受影响的婴儿,但没有证明有发展上的好处. 建议在怀孕期间评估母亲的B12状况,以防止不必要的婴儿诊断.

科学领域:

生物化学生物化学
儿科儿科儿科
公共卫生公共卫生

背景情况:

维生素B12缺乏 (B12D) 可能会对儿童早期发育产生负面影响.
新生儿查 (NBS) 程序可以检测可巴拉胺代谢的先天性错误,包括B12D.

研究的目的:

评估NBS在检测B12D方面的有效性及其对婴儿发育的影响.
为了确定新生儿B12D的预测因子.

主要方法:

通过NBS对59名怀疑B12D的新生儿进行了回顾性分析.
记录了NBS和回忆生物标志物,包括采样时的年龄和氨酸/氨酸比率.
使用Vineland III尺度评估婴儿的生长和精神运动发育.

主要成果:

在59例疑似病例中,B12D在15例 (25%) 中得到证实,在28例 (48%) 中未得到证实,在16例 (27%) 中未经调查.
采样时的年龄和氨酸/氨酸比率是B12D的关键预测指标 (准确率为67.4%).
确认,未确认或对照组之间没有观察到生长或精神运动发育的显著差异.

结论:

虽然NBS可以检测到细胞内B12活性降低,但它对婴儿认知发育或成长的优势仍然没有得到证实.
低母亲B12摄入量是常见的.
建议在怀孕期间评估母亲的B12状况,以避免不必要的新生儿检查.

关键词:

母乳养母乳养哺乳科巴拉胺是什么意思同型半氨酸同型半氨酸甲基马龙酸是一种甲基马龙酸.

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