Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.,Genetics in Medicine

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Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-01-10 , DOI: 10.1038/s41436-018-0407-8
Kim L McBride _{1,

2,

3} , Jill Pluciniczak _{1,

4} , Timothy Rhyand ₅ , Dennis Bartholomew _{1,

3}

Affiliation

PURPOSE Maternal phenylketonuria (MPKU) requires strict control of phenylalanine (Phe) and supplemental tyrosine (Tyr). Monitoring during pregnancy using dried blood spot (DBS) cards by tandem mass spectrometry (MS/MS) is now standard practice, however there are no Phe and Tyr reference ranges for DBS MS/MS method in healthy pregnant women. METHODS DBS cards (63-1364 days in storage) from healthy women with singleton pregnancies were analyzed by MS/MS. Three hundred ninety DBS cards from 170 pregnancies (5/1-39/6 weeks' gestation), were tested. RESULTS Both Phe and Tyr levels declined from the first trimester (Phe: 36.2 +/- 10.6; Tyr 25.7 +/- 9.7 µmol/L) to the second trimester (Phe 33.4+/-9.3; Tyr 21.7+/- 6.7 µmol/L) and remained stable in the third trimester (Phe 32.3 +/- 8.7; Tyr 21.0 +/- 6.6 µmol/L). Phe and Tyr levels declined over time since collection (Phe: 0.004 µmol/L per day; Tyr 0.002 µmol/L). Nomograms by gestational age were created using raw data and data adjusted for time from sample collection. Reference ranges by trimester are provided. CONCLUSIONS Both Phe and Tyr decline quickly during the first trimester and remain relatively constant over the second and third trimesters. These nomograms will provide a valuable resource for care of MPKU.

中文翻译：

通过串联质谱仪在正常孕妇的干血斑卡上测量整个妊娠期的苯丙氨酸和酪氨酸。

目的产妇苯丙酮尿症 (MPKU) 需要严格控制苯丙氨酸 (Phe) 和补充酪氨酸 (Tyr)。通过串联质谱 (MS/MS) 使用干血斑 (DBS) 卡在怀孕期间进行监测现已成为标准做法，但是对于健康孕妇的 DBS MS/MS 方法没有 Phe 和 Tyr 参考范围。方法通过 MS/MS 分析来自健康单胎妊娠女性的 DBS 卡（存储 63-1364 天）。测试了来自 170 次怀孕（妊娠 5/1-39/6 周）的 390 张 DBS 卡。结果从孕早期（Phe：36.2 +/- 10.6；Tyr 25.7 +/- 9.7 µmol/L）到孕中期（Phe 33.4+/-9.3；Tyr 21.7+/- 6.7 µmol/L），Phe 和 Tyr 水平均下降L) 并在妊娠晚期保持稳定 (Phe 32.3 +/- 8.7; Tyr 21.0 +/- 6.6 µmol/L)。自收集以来，Phe 和 Tyr 水平随时间下降（Phe：每天 0.004 µmol/L；Tyr 0.002 µmol/L）。使用原始数据和根据样本收集时间调整的数据创建按胎龄的列线图。提供了按三个月的参考范围。结论 Phe 和 Tyr 在孕早期迅速下降，在孕中期和孕晚期保持相对稳定。这些列线图将为 MPKU 的护理提供宝贵的资源。

更新日期：2019-01-26

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