Literature DB >> 21429517

Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.

Robin R McGoey1, Michael Marble.   

Abstract

A neonate with elevated tetradecenoylcarnitine (C14:1) on the newborn screen was evaluated for possible very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and found to be a carrier. However, his symptom-free mother was subsequently diagnosed with VLCADD. This documents maternal VLCADD causing a positive newborn screening result in an offspring.
Copyright © 2011 Mosby, Inc. All rights reserved.

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Year:  2011        PMID： 21429517     DOI： 10.1016/j.jpeds.2011.01.063

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  8 in total

1.  VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

Authors:  Lars Hoffmann; Ulrike Haussmann; Martina Mueller; Ute Spiekerkoetter
Journal:  J Inherit Metab Dis       Date:  2011-09-20       Impact factor: 4.982

2.  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

3.  Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening.

Authors:  U Spiekerkoetter; M Mueller; M Sturm; M Hofmann; D T Schneider
Journal:  JIMD Rep       Date:  2012-02-26

4.  Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants.

Authors:  Brian Kirmse; Charlotte V Hobbs; Inga Peter; Bryan Laplante; Michele Caggana; Karen Kloke; Kimiyo Raymond; Marshall Summar; William Borkowsky
Journal:  Pediatr Infect Dis J       Date:  2013-02       Impact factor: 2.129

5.  Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

Authors:  Margarita Tenopoulou; Jie Chen; Jean Bastin; Michael J Bennett; Harry Ischiropoulos; Paschalis-Thomas Doulias
Journal:  J Biol Chem       Date:  2015-03-03       Impact factor: 5.157

6.  Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Authors:  Lise Aksglaede; Mette Christensen; Jess H Olesen; Morten Duno; Rikke K J Olsen; Brage S Andresen; David M Hougaard; Allan M Lund
Journal:  JIMD Rep       Date:  2015-03-13

7.  Fatty Acid oxidation disorders in a chinese population in taiwan.

Authors:  Yin-Hsiu Chien; Ni-Chung Lee; Mei-Chyn Chao; Li-Chu Chen; Li-Hsin Chen; Chun-Ching Chien; Hui-Chen Ho; Jeng-Hung Suen; Wuh-Liang Hwu
Journal:  JIMD Rep       Date:  2013-05-23

8.  Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.

Authors:  Katharina A Schiergens; Katharina J Weiss; Wulf Röschinger; Amelie S Lotz-Havla; Joachim Schmitt; Robert Dalla Pozza; Sarah Ulrich; Birgit Odenwald; Joachim Kreuder; Esther M Maier
Journal:  Mol Genet Metab Rep       Date:  2021-06-12
  8 in total

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