Chapter title |
Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases
|
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Chapter number | 354 |
Book title |
Chemical Diagnostics
|
Published in |
Topics in current chemistry, August 2012
|
DOI | 10.1007/128_2012_354 |
Pubmed ID | |
Book ISBNs |
978-3-64-239941-1, 978-3-64-239942-8
|
Authors |
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Shiao-Fang Wang, Shu-Chuan Chiang, Li-Wen Hsu |
Abstract |
Many genetic diseases, especially the inborn errors of metabolism, have very low incidences, so developing a newborn screening test for each disease is not practical. This obstacle was overcome by employing the tandem mass spectrometry (MS/MS) technology. In the analysis, the samples can be injected directly into the flowing system without passing through a column, and both acylcarnitine and amino acid profiles can be obtained at the same time. MS/MS newborn screening has been shown to improve the outcome of patients affected by a number of inborn errors of metabolism. Recently, MS/MS analytical methods were developed for second-tier tests of newborn screening; new substrates have also been developed to measure the activity of lysosomal enzymes so lysosomal storage diseases can be diagnosed by MS/MS method now. |
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