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    Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program

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    Authors
    Zytkovicz, Thomas H.
    Sahai, Inderneel
    Rush, Amii
    Odewale, Adedoyin
    Johnson, Donna M.
    Fitzgerald, Eileen F.
    Britton, Deborah
    Eaton, Roger B.
    UMass Chan Affiliations
    Department of Pediatrics
    New England Newborn Screening Program
    Document Type
    Journal Article
    Publication Date
    2013-05-01
    Keywords
    Neonatal Screening
    Tyrosinemias
    Tyrosinemia
    Succinylacetone
    Newborn screening
    Dried blood spots
    Tandem mass spectrometry
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities
    Investigative Techniques
    Maternal and Child Health
    Medical Biochemistry
    Nervous System Diseases
    Nutritional and Metabolic Diseases
    Pediatrics
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    Link to Full Text
    http://dx.doi.org/10.1016/j.clinbiochem.2013.02.002
    Abstract
    OBJECTIVE: The objective of this study is to develop an isotope dilution liquid chromatography tandem mass spectrometry assay to screen for hepatorenal tyrosinemia (HT) from newborn filter paper samples using pooled extracts to increase high throughput screening. DESIGN AND METHODS: Succinylacetone (SUAC), the marker for HT, was extracted from dried blood spots with the formation of the hydrazone derivative of SUAC; up to eight sample extracts were pooled and the SUAC-derivative was analyzed by mass spectrometry methods with an injection-to-injection time of one minute. If any pooled sample extract screened positive, then the samples comprising the pooled sample were assayed individually. RESULTS: Two newborn infants were identified with high levels of SUAC (7 and 23muM) and later confirmed to have HT. Three older children whose initial filter paper samples were taken at 195days to 614days of age with elevated SUAC (range 4.9-5muM) were identified; one of the three had clinical signs of HT and was placed on treatment (diagnosis of the other two are unavailable). CONCLUSION: MS/MS analysis of pooled dried blood sample extracts permits sensitive, reduced instrumental analytical time and increase high throughput screening for HT. Elsevier Inc. All rights reserved.
    Source

    Clin Biochem. 2013 May;46(7-8):681-4. doi: 10.1016/j.clinbiochem.2013.02.002. Link to article on publisher's site

    DOI
    10.1016/j.clinbiochem.2013.02.002
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/30168
    PubMed ID
    23462696
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    Link to Article in PubMed

    ae974a485f413a2113503eed53cd6c53
    10.1016/j.clinbiochem.2013.02.002
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