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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges
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Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges

机译：比利时溶酶体贮积病的新生儿筛查性别和年龄相关参考范围的重要性

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Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatography?￠????tandem mass spectrometry. Around 20 000 newborn samples were analyzed for 3 lysosomal enzyme activities: ???±-glucosidase (deficient in Pompe disease), ???±-galactosidase (deficient in Fabry disease) and ???±-iduronidase (IDUA, deficient in MPS I). Data were used for statistical analysis and to establish sex- and age-dependent reference ranges. Statistically significant higher ???±-glucosidase, ???±-galactosidase, and IDUA enzyme activities were observed in female newborns compared to male newborns. Newborns with a higher gestational age have a statistically significant lower ???±-glucosidase, ???±-galactosidase, and IDUA enzyme activities compared to newborns with a lower gestational age. For the first time, the data of a large-scale LSD study were used to assess statistical differences in enzyme activity in the newborn population, and these data highlight the importance of using reference intervals for lysosomal enzyme activities in function of sex and gestational age.
机译：溶酶体贮积症（LSD）是一组代谢紊乱，具有各种临床表现，使诊断复杂化。使用液相色谱-串联质谱法进行了一项初步研究，以检验新生儿筛查方法对干血斑中庞贝病，法布里病和粘多糖贮积病（MPS）I的适用性和有效性。分析了大约2万个新生儿样品的3种溶酶体酶活性：±-葡萄糖苷酶（庞贝病缺陷），±-半乳糖苷酶（法布里病缺陷）和±-异糖苷酸酶（IDUA，缺陷）。 MPS I）。数据用于统计分析并建立性别和年龄相关的参考范围。与男性新生儿相比，在女性新生儿中观察到统计学上显着较高的β-葡萄糖苷酶，β-半乳糖苷酶和IDUA酶活性。具有较高胎龄的新生儿与具有较低胎龄的新生儿相比，具有统计学上显着较低的β-葡萄糖苷酶，β-半乳糖苷酶和IDUA酶活性。首次将大规模LSD研究的数据用于评估新生儿人群中酶活性的统计差异，这些数据凸显了使用溶酶体酶活性参考区间在性别和胎龄方面的重要性。

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