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Articles Published Processes
11/26/2018 6:26:45 AM | Browse: 767 | Download: 1067
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Received |
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2018-08-15 02:16 |
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Peer-Review Started |
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2018-08-17 09:25 |
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To Make the First Decision |
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2018-09-03 02:00 |
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Return for Revision |
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2018-09-11 01:00 |
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Revised |
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2018-10-10 08:59 |
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Second Decision |
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2018-10-11 09:45 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2018-10-11 18:34 |
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Articles in Press |
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2018-10-11 18:34 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2018-10-31 19:52 |
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Typeset the Manuscript |
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2018-11-09 09:09 |
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Publish the Manuscript Online |
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2018-11-26 06:26 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Endocrinology & Metabolism |
| Manuscript Type |
Case Report |
| Article Title |
Glutaric acidemia type Ⅱ patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Neslihan Yildirim Saral, Fehime Benli Aksungar, Cigdem Aktuglu-Zeybek, Julide Coskun, Ozlem Demirelce and Mustafa Serteser |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Neslihan Yildirim Saral, MD, Doctor, Doctor, Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories, Kayısdagı Caddesi, No 32, B Blok Atasehir, İstanbul 34752, Türkiye. neslihan.saral@acibademlabmed.com.tr |
| Key Words |
Electron transfer flavoprotein-A mutation; Newborn screening; Glutaric acidemia type Ⅱ; Inborn error of metabolism; Ketone bodies; Case report |
| Core Tip |
Multiple acyl-CoA dehydrogenase deficiency (GAⅡ) is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be the etiology for the disease. Most neonatal-onset patients of GAⅡ may not survive due to progressive deterioration despite aggressive treatment. However, at 8 mo of age our patient, with the experimentally added ketone therapy, had no major health problems, and neuromotor development was normal for her age. The present case report is the only one reporting a patient with both GAⅡ and thalassemia minor. |
| Publish Date |
2018-11-26 06:26 |
| Citation |
Saral NY, Aksungar FB, Aktuglu-Zeybek C, Coskun J, Demirelce O, Serteser M. Glutaric acidemia type Ⅱ patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature. World J Clin Cases 2018; 6(14): 786-790 |
| URL |
http://www.wjgnet.com/2307-8960/full/v6/i14/786.htm |
| DOI |
http://dx.doi.org/10.12998/wjcc.v6.i14.786 |
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