| Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. | |
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MedLine Citation:
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PMID: 14578311 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, specific, reliable, and comprehensive than traditional assays, into their newborn-screening programs. MS/MS is rapidly replacing these one-analysis, one-metabolite, one-disease classic screening techniques with a one-analysis, many-metabolites, many-diseases approach that also facilitates the ability to add new disorders to existing newborn-screening panels. METHODS: During the past few years experts have authored many valuable articles describing various approaches to newborn metabolic screening by MS/MS. We attempted to document key developments in the introduction and validation of MS/MS screening for metabolic disorders. Our approach used the perspective of the metabolite and which diseases may be present from its detection rather than a more traditional approach of describing a disease and noting which metabolites are increased when it is present. CONTENT: This review cites important historical developments in the introduction and validation of MS/MS screening for metabolic disorders. It also offers a basic technical understanding of MS/MS as it is applied to multianalyte metabolic screening and explains why MS/MS is well suited for analysis of amino acids and acylcarnitines in dried filter-paper blood specimens. It also describes amino acids and acylcarnitines as they are detected and measured by MS/MS and their significance to the identification of specific amino acid, fatty acid, and organic acid disorders. CONCLUSIONS: Multianalyte technologies such as MS/MS are suitable for newborn screening and other mass screening programs because they improve the detection of many diseases in the current screening panel while enabling expansion to disorders that are now recognized as important and need to be identified in pediatric medicine. |
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Authors:
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Donald H Chace; Theodore A Kalas; Edwin W Naylor |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Clinical chemistry Volume: 49 ISSN: 0009-9147 ISO Abbreviation: Clin. Chem. Publication Date: 2003 Nov |
Date Detail:
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Created Date: 2003-10-27 Completed Date: 2003-11-17 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9421549 Medline TA: Clin Chem Country: United States |
Other Details:
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Languages: eng Pagination: 1797-817 Citation Subset: IM |
Affiliation:
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Pediatrix Screening, PO Box 219, 90 Emerson Lane, Bridgeville, PA 15017, USA. donald_chace@pediatrix.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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blood Amino Acids / blood Blood Specimen Collection* Carnitine / analogs & derivatives*, blood Hematologic Tests / methods* Humans Infant, Newborn Lipid Metabolism, Inborn Errors / blood Mass Spectrometry / methods* |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 0/acylcarnitine; 541-15-1/Carnitine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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