内源性、非还原末端糖胺聚糖生物标志物优于内部二糖糖胺聚糖生物标志物，可用于黏多糖贮积症和 GM1 神经节苷脂贮积症的新生儿筛查。
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
机构信息
Department of Chemistry, University of Washington, Seattle, WA 98195, USA.
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
出版信息
Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24.
Abstract
Measurement of enzymatic activity in newborn dried blood spots (DBS) is the preferred first-tier method in newborn screening (NBS) for mucopolysaccharidoses (MPSs). Our previous publications on glycosaminoglycan (GAG) biomarker levels in DBS for mucopolysaccharidosis type 1 (MPS-I) and MPS-II demonstrated that second-tier GAG biomarker analysis can dramatically reduce the false positive rate in NBS. In the present study, we evaluate two methods for measuring GAG biomarkers in seven MPS types and GM1 gangliosidosis. We obtained newborn DBS from patients with MPS-IIIA-D, -IVA, -VI, -VII, and GM1 gangliosidosis. These samples were analyzed via two GAG mass spectrometry methods: (1) The internal disaccharide biomarker method; (2) The endogenous non-reducing end (NRE) biomarker method. This study supports the use of second-tier GAG analysis of newborn DBS by the endogenous NRE biomarker method, as part of NBS to reduce the false positive rate.
摘要
在新生儿筛查（NBS）中，检测新生儿干血斑（DBS）中的酶活性是黏多糖贮积症（MPS）的首选一线方法。我们之前发表的关于 DBS 中黏多糖贮积症 1 型（MPS-I）和 MPS-II 中糖胺聚糖（GAG）生物标志物水平的文章表明，二级 GAG 生物标志物分析可以显著降低 NBS 中的假阳性率。在本研究中，我们评估了两种用于检测七种 MPS 类型和 GM1 神经节苷脂贮积症中 GAG 生物标志物的方法。我们从 MPS-IIIA-D、-IVA、-VI、-VII 和 GM1 神经节苷脂贮积症患者中获得了新生儿 DBS。这些样本通过两种 GAG 质谱法进行分析：（1）内部二糖生物标志物法；（2）内源性非还原端（NRE）生物标志物法。本研究支持将新生儿 DBS 的二级 GAG 分析采用内源性 NRE 生物标志物法，作为 NBS 的一部分，以降低假阳性率。
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