Glutaric Aciduria Type II - PMC

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Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu

Lipids Health Dis. 2017; 16: 185. Published online 2017 Sep 26. doi: 10.1186/s12944-017-0576-5

PMCID:: PMC5615764

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Select item 39701092.

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

Lynne A. Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead, Charles Hoppel, Elaine Spector, Kim Gernert, K. Michael Gibson

J Inherit Metab Dis. Author manuscript; available in PMC 2014 Mar 31.

Published in final edited form as: J Inherit Metab Dis. 2010 Dec; 33(0 3): S481–S487. Published online 2010 Nov 19. doi: 10.1007/s10545-010-9246-8

PMCID:: PMC3970109

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Select item 72824253.

Sudden cardiac arrest during induction of anaesthesia in paediatric patient with glutaric aciduria type II

Sema Şanal Baş, Gonca Kılıç Yıldırım

Sudan J Paediatr. 2020; 20(1): 58–61. doi: 10.24911/SJP.106-1580816331

PMCID:: PMC7282425

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Select item 79816644.

Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping

Laurence Carmant, Aspasia Karalis, Françoise Rypens, Luc Oligny, Sandrine Wavrant, Anne‐Laure Lapeyraque, Elisabeth Codsi

Clin Case Rep. 2021 Mar; 9(3): 1101–1103. Published online 2021 Jan 12. doi: 10.1002/ccr3.3663

PMCID:: PMC7981664

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Select item 41103415.

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

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

JIMD Rep. 2014; 13: 1–14. Published online 2013 Nov 5. doi: 10.1007/8904_2013_262

PMCID:: PMC4110341

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Select item 41103406.

Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat

Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki, Haruo Fujita, Koichiro Nishino

JIMD Rep. 2014; 13: 43–51. Published online 2013 Oct 20. doi: 10.1007/8904_2013_268

PMCID:: PMC4110340

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Select item 47855657.

A novel ETFB mutation in a patient with glutaric aciduria type II

Yosuke Sudo, Ayako Sasaki, Takashi Wakabayashi, Chikahiko Numakura, Kiyoshi Hayasaka

Hum Genome Var. 2015; 1: 15016. Published online 2015 Jun 18. doi: 10.1038/hgv.2015.16

PMCID:: PMC4785565

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Select item 58274308.

Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein

Peter Augustin, Marina Toplak, Katharina Fuchs, Eva Christine Gerstmann, Ruth Prassl, Andreas Winkler, Peter Macheroux

J Biol Chem. 2018 Feb 23; 293(8): 2829–2840. Published online 2018 Jan 4. doi: 10.1074/jbc.RA117.000846

PMCID:: PMC5827430

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Select item 45014579.

Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

Ebru Ortac Ersoy, Dorina Rama, Özlem Ünal, Serap Sivri, Arzu Topeli

Respir Med Case Rep. 2015; 15: 92–94. Published online 2015 May 11. doi: 10.1016/j.rmcr.2015.02.009

PMCID:: PMC4501457

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Select item 279122110.

Mechanisms Underlying Metabolic and Neural Defects in Zebrafish and Human Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Yuanquan Song, Mary A. Selak, Corey T. Watson, Christopher Coutts, Paul C. Scherer, Jessica A. Panzer, Sarah Gibbs, Marion O. Scott, Gregory Willer, Ronald G. Gregg, Declan W. Ali, Michael J. Bennett, Rita J. Balice-Gordon

PLoS One. 2009; 4(12): e8329. Published online 2009 Dec 17. doi: 10.1371/journal.pone.0008329

PMCID:: PMC2791221

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Select item 304059111.

State of the art in muscle lipid diseases

W-C. Liang, I. Nishino

Acta Myol. 2010 Oct; 29(2): 351–356.

PMCID:: PMC3040591

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Select item 778227312.

Cardiac Complications of Propionic and Other Inherited Organic Acidemias

Kyung Chan Park, Steve Krywawych, Eva Richard, Lourdes R. Desviat, Pawel Swietach

Front Cardiovasc Med. 2020; 7: 617451. Published online 2020 Dec 22. doi: 10.3389/fcvm.2020.617451

PMCID:: PMC7782273

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Select item 422258513.

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Sarah C Grünert

Orphanet J Rare Dis. 2014; 9: 117. Published online 2014 Jul 22. doi: 10.1186/s13023-014-0117-5

PMCID:: PMC4222585

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Select item 42374214.

Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.

Y Ikeda, S M Keese, K Tanaka

J Clin Invest. 1986 Oct; 78(4): 997–1002. doi: 10.1172/JCI112691

PMCID:: PMC423742

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Select item 32955115.

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

B A Amendt, W J Rhead

J Clin Invest. 1986 Jul; 78(1): 205–213. doi: 10.1172/JCI112553

PMCID:: PMC329551

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Select item 37044216.

Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

B Dubiel, C Dabrowski, R Wetts, K Tanaka

J Clin Invest. 1983 Nov; 72(5): 1543–1552. doi: 10.1172/JCI111113

PMCID:: PMC370442

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Select item 721258817.

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang

BMC Med Genet. 2020; 21: 98. Published online 2020 May 11. doi: 10.1186/s12881-020-00995-2

PMCID:: PMC7212588

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Select item 368172518.

Multi-organ Abnormalities and mTORC1 Activation in Zebrafish Model of Multiple Acyl-CoA Dehydrogenase Deficiency

Seok-Hyung Kim, Sarah A. Scott, Michael J. Bennett, Robert P. Carson, Joshua Fessel, H. Alex Brown, Kevin C. Ess

PLoS Genet. 2013 Jun; 9(6): e1003563. Published online 2013 Jun 13. doi: 10.1371/journal.pgen.1003563

PMCID:: PMC3681725

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Select item 541702019.

Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases

Daniele Grioni, Andrea Landi, Serena Gasperini, Andrea Trezza, Leonardo Fiori, Miriam Rigoldi, Rossella Parini, Erik Pietro Sganzerla

Child Neurol Open. 2015 Oct-Dec; 2(4): 2329048X15612432. Published online 2015 Oct 25. doi: 10.1177/2329048X15612432

PMCID:: PMC5417020

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Hepatic neddylation targets and stabilizes electron transfer flavoproteins to facilitate fatty acid β-oxidation

Xueying Zhang, Yao-Lin Zhang, Guihua Qiu, Lili Pian, Lu Guo, Huanling Cao, Jian Liu, Yawei Zhao, Xin Li, Zhe Xu, Xiaofeng Huang, Jingru Huang, Jie Dong, Beifen Shen, Hong-Xia Wang, Xiaomin Ying, Weiping J. Zhang, Xuetao Cao, Jiyan Zhang

Proc Natl Acad Sci U S A. 2020 Feb 4; 117(5): 2473–2483. Published online 2020 Jan 15. doi: 10.1073/pnas.1910765117