Literature DB >> 15902557

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.

M F Browning1, C Larson, A Strauss, D L Marsden.   

Abstract

We report two infants identified by tandem mass spectrometry (MS/MS) of neonatal blood spot acylcarnitines and confirmed by molecular genetic analysis to have long-chain fatty acid oxidation defects. In both cases, acylcarnitine concentrations in confirmatory plasma samples were normal. None the less, molecular testing identified trifunctional protein (TFP) deficiency (McKusick 600890) and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (McKusick 201475).

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Year:  2005        PMID： 15902557     DOI： 10.1007/s10545-005-0545-4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  13 in total

1.  False-positive newborn screening result and future health care use in a state Medicaid cohort.

Authors:  Beth A Tarini; Sarah J Clark; Subra Pilli; Kevin J Dombkowski; Steven J Korzeniewski; Acham Gebremariam; Jon Eisenhandler; Violanda Grigorescu
Journal:  Pediatrics       Date:  2011-09-19       Impact factor: 7.124

2.  High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

Authors:  Rikke Katrine Jentoft Olsen; Steven F Dobrowolski; Margrethe Kjeldsen; David Hougaard; Henrik Simonsen; Niels Gregersen; Brage Storstein Andresen
Journal:  J Inherit Metab Dis       Date:  2010-05-18       Impact factor: 4.982

3.  Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Authors:  Marcus J Miller; Lindsay C Burrage; James B Gibson; Meghan E Strenk; Edward J Lose; David P Bick; Sarah H Elsea; V Reid Sutton; Qin Sun; Brett H Graham; William J Craigen; Victor Wei Zhang; Lee-Jun C Wong
Journal:  Mol Genet Metab       Date:  2015-09-02       Impact factor: 4.797

4.  Introducing new screens: why are we all doing different things?

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  2007-07-06       Impact factor: 4.982

5.  Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Authors:  B Merinero; P Alcaide; E Martín-Hernández; A Morais; M T García-Silva; P Quijada-Fraile; C Pedrón-Giner; E Dulin; R Yahyaoui; J M Egea; A Belanger-Quintana; J Blasco-Alonso; M L Fernandez Ruano; B Besga; I Ferrer-López; F Leal; M Ugarte; P Ruiz-Sala; B Pérez; C Pérez-Cerdá
Journal:  JIMD Rep       Date:  2017-07-29

6.  Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

Authors:  Dau-Ming Niu; Yin-Hsiu Chien; Chuan-Chi Chiang; Hui-Chen Ho; Wuh-Liang Hwu; Shu-Min Kao; Szu-Hui Chiang; Chuan-Hong Kao; Tze-Tze Liu; Hung Chiang; Kwang-Jen Hsiao
Journal:  J Inherit Metab Dis       Date:  2010-06-22       Impact factor: 4.982

7.  Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Authors:  I Sahai; C L Garganta; J Bailey; P James; H L Levy; M Martin; E Neilan; C Phornphutkul; D A Sweetser; T H Zytkovicz; R B Eaton
Journal:  JIMD Rep       Date:  2013-11-05

8.  Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

Authors:  Lindsay C Burrage; Marcus J Miller; Lee-Jun Wong; Adam D Kennedy; V Reid Sutton; Qin Sun; Sarah H Elsea; Brett H Graham
Journal:  J Pediatr       Date:  2015-11-18       Impact factor: 4.406

9.  A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Authors:  Georgianne L Arnold; Johan Van Hove; Debra Freedenberg; Arnold Strauss; Nicola Longo; Barbara Burton; Cheryl Garganta; Can Ficicioglu; Stephen Cederbaum; Cary Harding; Richard G Boles; Dietrich Matern; Pranesh Chakraborty; Annette Feigenbaum
Journal:  Mol Genet Metab       Date:  2009-01-20       Impact factor: 4.797

10.  A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

Authors:  Frank ter Veld; Martina Mueller; Simone Kramer; Ulrike Haussmann; Diran Herebian; Ertan Mayatepek; Maurice D Laryea; Sonja Primassin; Ute Spiekerkoetter
Journal:  PLoS One       Date:  2009-07-30       Impact factor: 3.240
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