PILOT RESEARCH ON EXPANDING SLOVENIAN NEWBORN SCREENING PROGRAMME FOR INHERITED METABOLIC DISORDERS DETECTABLE BY TANDEM MASS SPECTROMETRY

被引：0

作者：

Smon, Andraz ^{[1
]}

Murko, Simona ^{[2
]}

Lampret, Barbka Repic ^{[2
]}

Battelino, Tadej ^{[1
,3
]}

机构：

[1] UMC Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia

[2] UMC Ljubljana, Univ Childrens Hosp, Unit Special Lab Diagnost, Ljubljana, Slovenia

[3] Univ Ljubljana, Fac Med, Dept Paediat, Ljubljana, Slovenia

来源：

CHEMICKE LISTY | 2014年 / 108卷

关键词：

newborn screening; tandem mass spectrometry; inborn errors of metabolism; C5OH-Carnitine; ACYL-COA DEHYDROGENASE; DEFICIENCY;

D O I：

暂无

中图分类号：

O6 [化学];

学科分类号：

0703 ;

摘要：

Slovenia has not yet incorporated tandem mass spectrometry (MS/MS) into its newborn screening (NBS) programme for inborn errors of metabolism (IEM). In our pilot study we will use MS/MS to screen newborns for IEM with the aim to evaluate a possible expansion of Slovenian NBS programme. To detect IEM we quantified 28 acylcarnitines and 12 amino acids in dried blood spots. So far we have screened 1000 newborns and found one clearly abnormal elevation of C5OH-Carnitine. The follow-up tests gave normal results so we concluded that it was a false-positive case.

引用

页码：S183 / S186

页数：4

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