Literature DB >> 20056241

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

Can Ficicioglu1, Curtis R Coughlin, Michael J Bennett, Marc Yudkoff.   

Abstract

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) can be detected through newborn screening with tandem mass spectrometry. We report a patient who died as a result of severe brain injury due to hypoglycemia. Newborn screening was normal. Postmortem enzyme analysis and molecular testing confirmed the diagnosis of VLCADD. Copyright 2010 Mosby, Inc. All rights reserved.

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Year:  2010        PMID： 20056241     DOI： 10.1016/j.jpeds.2009.10.031

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


  13 in total

Review 1.  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  Kenji Yamada; Takeshi Taketani
Journal:  J Hum Genet       Date:  2018-11-06       Impact factor: 3.172

2.  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

3.  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

Review 4.  Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

Authors:  Stephanie L Byers; Can Ficicioglu
Journal:  World J Cardiol       Date:  2014-11-26

5.  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

6.  Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

Authors:  Andrew C Edmondson; Jennifer Salant; Lynne A Ierardi-Curto; Can Ficicioglu
Journal:  JIMD Rep       Date:  2016-04-12

7.  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

8.  Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency.

Authors:  Leah Dowsett; Lauren Lulis; Can Ficicioglu; Sanmati Cuddapah
Journal:  Int J Neonatal Screen       Date:  2017-04-28

9.  Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Authors:  Amelie S Lotz-Havla; Wulf Röschinger; Katharina Schiergens; Katharina Singer; Daniela Karall; Vassiliki Konstantopoulou; Saskia B Wortmann; Esther M Maier
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123

10.  A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth.

Authors:  Kenji Yamada; Ryosuke Bo; Hironori Kobayashi; Yuki Hasegawa; Mako Ago; Seiji Fukuda; Seiji Yamaguchi; Takeshi Taketani
Journal:  Mol Genet Metab Rep       Date:  2017-05-02
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