ETHYLMALONIC ACID (BioDeep_00000400094)

Main id: BioDeep_00000628747

 

natural product PANOMIX_OTCML-2023


代谢物信息卡片


2-ethyl-propanedioic acid

化学式: C5H8O4 (132.0422568)
中文名称: 乙基丙二酸
谱图信息: 最多检出来源 () 0%

分子结构信息

SMILES: CCC(C(=O)O)C(=O)O
InChI: InChI=1S/C5H8O4/c1-2-3(4(6)7)5(8)9/h3H,2H2,1H3,(H,6,7)(H,8,9)

描述信息

A dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group.
Ethylmalonic acid is non-carcinogenic potentially toxic and associated with anorexia nervosa and malonyl-CoA decarboxylase deficiency.

同义名列表

2 个代谢物同义名

ETHYLMALONIC ACID; 2-ethyl-propanedioic acid



数据库引用编号

23 个数据库交叉引用编号

分类词条

相关代谢途径

Reactome(0)

BioCyc(0)

PlantCyc(0)

代谢反应

0 个相关的代谢反应过程信息。

Reactome(0)

BioCyc(0)

WikiPathways(0)

Plant Reactome(0)

INOH(0)

PlantCyc(0)

COVID-19 Disease Map(0)

PathBank(0)

PharmGKB(0)

10 个相关的物种来源信息

在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：

  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
  • NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。



文献列表

  • Kuan-Wei Peng, Allison Klotz, Arcan Guven, Kayleigh Gray, Tracey Friss, Shobha Ravipaty, Rangaprasad Sarangarajan, Vladimir Tolstikov, Mark D Kellogg, Niven R Narain, Michael A Kiebish. Multiplexed LC-MS/MS analysis of methylsuccinic acid, ethylmalonic acid, and glutaric acid in plasma and urine. Analytical biochemistry. 2022 05; 645(?):114604. doi: 10.1016/j.ab.2022.114604. [PMID: 35217005]
  • Sarah Fogh, Graziana Dipace, Anne Bie, Maria Veiga-da-Cunha, Jakob Hansen, Margrethe Kjeldsen, Signe Mosegaard, Antonia Ribes, Niels Gregersen, Lars Aagaard, Emile Van Schaftingen, Rikke K J Olsen. Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?. Journal of inherited metabolic disease. 2021 09; 44(5):1215-1225. doi: 10.1002/jimd.12394. [PMID: 33973257]
  • Irene De Biase, Tatiana Yuzyuk, Alicia Hernandez, Alice Basinger. An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency. Clinical chemistry. 2021 09; 67(9):1290-1292. doi: 10.1093/clinchem/hvab096. [PMID: 34470039]
  • Sirun Özçelik, Nevin Öztekin, Ertuğrul Kıykım, Mehmet Şerif Cansever, Ayşe Çiğdem Aktuğlu-Zeybek. Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria. Journal of separation science. 2020 Apr; 43(7):1365-1371. doi: 10.1002/jssc.201901044. [PMID: 31958360]
  • Kaihui Zhang, Yan Huang, Zhongtao Gai, Yi Liu. [Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2018 Oct; 35(5):694-698. doi: 10.3760/cma.j.issn.1003-9406.2018.05.017. [PMID: 30298498]
  • Xinyang Wang, Xinshu Zhao, Jing Chou, Jiaying Yu, Tongshu Yang, Liyan Liu, Fengmin Zhang. Taurine, glutamic acid and ethylmalonic acid as important metabolites for detecting human breast cancer based on the targeted metabolomics. Cancer biomarkers : section A of Disease markers. 2018; 23(2):255-268. doi: 10.3233/cbm-181500. [PMID: 30103303]
  • Roy W A Peake, Lance H Rodan. Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. Clinical chemistry. 2017 11; 63(11):1771-1773. doi: 10.1373/clinchem.2017.279497. [PMID: 29089323]
  • Chandra Shekar R Ambati, Furong Yuan, Lutfi A Abu-Elheiga, Yiqing Zhang, Vivekananda Shetty. Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics. Journal of the American Society for Mass Spectrometry. 2017 05; 28(5):929-938. doi: 10.1007/s13361-017-1631-1. [PMID: 28315235]
  • Yoo-Mi Kim, Chong-Kun Cheon, Kyung-Hee Park, SungWon Park, Gu-Hwan Kim, Han-Wook Yoo, Kyung-A Lee, Jung Min Ko. Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. Annals of clinical and laboratory science. 2016 Jul; 46(4):360-6. doi: . [PMID: 27466294]
  • M Trent Herdman, Natthida Sriboonvorakul, Stije J Leopold, Sam Douthwaite, Sanjib Mohanty, M Mahtab Uddin Hassan, Richard J Maude, Hugh W F Kingston, Katherine Plewes, Prakaykaew Charunwatthana, Kamolrat Silamut, Charles J Woodrow, Aniruddha Ghose, Kesinee Chotinavich, Md Amir Hossain, M Abul Faiz, Saroj Mishra, Natchanun Leepipatpiboon, Nicholas J White, Nicholas P J Day, Joel Tarning, Arjen M Dondorp. The role of previously unmeasured organic acids in the pathogenesis of severe malaria. Critical care (London, England). 2015 Sep; 19(?):317. doi: 10.1186/s13054-015-1023-5. [PMID: 26343146]
  • Luciana Ritter, Daniele Kleemann, Fernanda Hermes Hickmann, Alexandre Umpierrez Amaral, Ângela Sitta, Moacir Wajner, César Augusto João Ribeiro. Disturbance of energy and redox homeostasis and reduction of Na+,K+-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats. Biochimica et biophysica acta. 2015 May; 1852(5):759-67. doi: 10.1016/j.bbadis.2015.01.003. [PMID: 25583115]
  • Patrícia Fernanda Schuck, Ana Paula Milanez, Francine Felisberto, Leticia Selinger Galant, Jéssica Luca Machado, Camila Brulezi Furlanetto, Fabricia Petronilho, Felipe Dal-Pizzol, Emilio Luiz Streck, Gustavo Costa Ferreira. Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration. PloS one. 2015; 10(5):e0126606. doi: 10.1371/journal.pone.0126606. [PMID: 26010931]
  • Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, Fani Athanassiadou-Piperopoulou. An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. Journal of child neurology. 2013 May; 28(5):668-71. doi: 10.1177/0883073812449070. [PMID: 22805253]
  • Imad Dweikat, Enas Naser, Nadera Damsah, Bassam Abu Libdeh, Izzeddin Bakri. Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. Metabolic brain disease. 2012 Dec; 27(4):613-6. doi: 10.1007/s11011-012-9313-y. [PMID: 22584649]
  • Lindsay Tomlinson, Mark A Tirmenstein, Evan B Janovitz, Nelly Aranibar, Karl-Heinz Ott, John C Kozlosky, Laura M Patrone, William E Achanzar, Karen A Augustine, Kimberly C Brannen, Kenneth E Carlson, Jeffrey H Charlap, Katherine M Dubrow, Liya Kang, Laura T Rosini, Julieta M Panzica-Kelly, Oliver P Flint, Frederic J Moulin, John R Megill, Haiying Zhang, Michael J Bennett, Joseph J Horvath. Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs. Toxicological sciences : an official journal of the Society of Toxicology. 2012 Oct; 129(2):268-79. doi: 10.1093/toxsci/kfs217. [PMID: 22821849]
  • Meghan M Holdorf, Heather A Owen, Sarah Rhee Lieber, Li Yuan, Nicole Adams, Carole Dabney-Smith, Christopher A Makaroff. Arabidopsis ETHE1 encodes a sulfur dioxygenase that is essential for embryo and endosperm development. Plant physiology. 2012 Sep; 160(1):226-36. doi: 10.1104/pp.112.201855. [PMID: 22786886]
  • Natalie M Gallant, Karen Leydiker, Hao Tang, Lisa Feuchtbaum, Fred Lorey, Rebecca Puckett, Joshua L Deignan, Julie Neidich, Naghmeh Dorrani, Erica Chang, Bruce A Barshop, Stephen D Cederbaum, Jose E Abdenur, Raymond Y Wang. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Molecular genetics and metabolism. 2012 May; 106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. [PMID: 22424739]
  • Carole L Linster, Gaëtane Noël, Vincent Stroobant, Didier Vertommen, Marie-Françoise Vincent, Guido T Bommer, Maria Veiga-da-Cunha, Emile Van Schaftingen. Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. The Journal of biological chemistry. 2011 Dec; 286(50):42992-3003. doi: 10.1074/jbc.m111.281527. [PMID: 22016388]
  • C M Westermann, L Dorland, O P van Diggelen, K Schoonderwoerd, J Bierau, H R Waterham, J H van der Kolk. Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. Molecular genetics and metabolism. 2011 Nov; 104(3):273-8. doi: 10.1016/j.ymgme.2011.07.022. [PMID: 21843962]
  • A Drousiotou, I DiMeo, R Mineri, Th Georgiou, G Stylianidou, V Tiranti. Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. Clinical genetics. 2011 Apr; 79(4):385-90. doi: 10.1111/j.1399-0004.2010.01457.x. [PMID: 20528888]
  • Zarazuela Zolkipli, Christina B Pedersen, Anne-Marie Lamhonwah, Niels Gregersen, Ingrid Tein. Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. PloS one. 2011 Apr; 6(4):e17534. doi: 10.1371/journal.pone.0017534. [PMID: 21483766]
  • Annet M Bosch, Nico G G M Abeling, Lodewijk Ijlst, Hennie Knoester, W Ludo van der Pol, Alida E M Stroomer, Ronald J Wanders, Gepke Visser, Frits A Wijburg, Marinus Duran, Hans R Waterham. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. Journal of inherited metabolic disease. 2011 Feb; 34(1):159-64. doi: 10.1007/s10545-010-9242-z. [PMID: 21110228]
  • Se Hwa Kim, Hyung-Doo Park, Young Bae Sohn, Sung Won Park, Sung Yoon Cho, Suntae Ji, Su Jin Kim, Eun Wha Choi, Chi Hwa Kim, Ah-Ra Ko, Sunghee Yeau, Kyung-Hoon Paik, Dong-Kyu Jin. Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency. Annals of clinical and laboratory science. 2011; 41(1):84-8. doi: . [PMID: 21325261]
  • Ewa Jamroz, Justyna Paprocka, Dariusz Adamek, Justyna Pytel, Katarzyna Szczechowska, Natalia Grabska, Michalina Malec, Ewa Głuszkiewicz, Michał Daab, Anatolij Wodołażski. Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma. Folia neuropathologica. 2011; 49(1):71-7. doi: NULL. [PMID: 21455846]
  • Makoto Takei, Yosuke Ando, Wataru Saitoh, Tomoe Tanimoto, Naoki Kiyosawa, Sunao Manabe, Atsushi Sanbuissho, Osamu Okazaki, Haruo Iwabuchi, Takashi Yamoto, Klaus-Peter Adam, James E Weiel, John A Ryals, Michael V Milburn, Lining Guo. Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme family. Toxicological sciences : an official journal of the Society of Toxicology. 2010 Dec; 118(2):643-52. doi: 10.1093/toxsci/kfq211. [PMID: 20616209]
  • Magalie Barth, Chris Ottolenghi, Laurence Hubert, Dominique Chrétien, Valérie Serre, Stéphanie Gobin, Stéphane Romano, Anne Vassault, Aziz Sefiani, Daniel Ricquier, Nathalie Boddaert, Michèle Brivet, Yves de Keyzer, Arnold Munnich, Marinus Duran, Daniel Rabier, Vassili Valayannopoulos, Pascale de Lonlay. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. Journal of inherited metabolic disease. 2010 Dec; 33 Suppl 3(?):S443-53. doi: 10.1007/s10545-010-9227-y. [PMID: 20978941]
  • Bianca T van Maldegem, Ronald J A Wanders, Frits A Wijburg. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. Journal of inherited metabolic disease. 2010 Oct; 33(5):507-11. doi: 10.1007/s10545-010-9080-z. [PMID: 20429031]
  • Christina B Pedersen, Zarazuela Zolkipli, Søren Vang, Johan Palmfeldt, Margrethe Kjeldsen, Vibeke Stenbroen, Stinne P Schmidt, Ronald J A Wanders, Jos P N Ruiter, Flemming Wibrand, Ingrid Tein, Niels Gregersen. Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. Journal of inherited metabolic disease. 2010 Jun; 33(3):211-22. doi: 10.1007/s10545-010-9086-6. [PMID: 20443061]
  • Raffaella Zannolli, Sabrina Buoni, Maria Tassini, Anna De Nicola, Gianni Betti, Claudio De Felice, Alessandra Orsi, Maria Concetta Varetti, Francesco Ferrara, Mario Messina, Cosimo Giannini, Angelika Mohn, Francesco Chiarelli, Marco Liberati, Mirella Strambi, Silvia Funghini, Antonio Vivi, Ron A Wevers, Joseph Hayek. Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction. NMR in biomedicine. 2010 May; 23(4):353-8. doi: 10.1002/nbm.1468. [PMID: 20187168]
  • Bianca T van Maldegem, Marinus Duran, Ronald J A Wanders, Hans R Waterham, Frits A Wijburg. Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. Pediatric research. 2010 Mar; 67(3):304-8. doi: 10.1203/pdr.0b013e3181cbd57b. [PMID: 19952864]
  • Patrícia Fernanda Schuck, Estela Natacha Brandt Busanello, Alana Pimentel Moura, Anelise Miotti Tonin, Mateus Grings, Luciana Ritter, Carmen Regla Vargas, Gustavo da Costa Ferreira, Moacir Wajner. Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. Neurochemical research. 2010 Feb; 35(2):298-305. doi: 10.1007/s11064-009-0055-0. [PMID: 19757035]
  • Bianca T van Maldegem, Marinus Duran, Ronald J A Wanders, Hans R Waterham, Tom J de Koning, Estela Rubio, Frits A Wijburg. Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. The Journal of pediatrics. 2010 Jan; 156(1):121-7. doi: 10.1016/j.jpeds.2009.07.008. [PMID: 19800078]
  • Anibh M Das, Ulrike Steuerwald, Sabine Illsinger. Inborn errors of energy metabolism associated with myopathies. Journal of biomedicine & biotechnology. 2010; 2010(?):340849. doi: 10.1155/2010/340849. [PMID: 20589068]
  • Patrícia Fernanda Schuck, Gustavo da Costa Ferreira, Carolina Maso Viegas, Anelise Miotti Tonin, Estela Natacha Brandt Busanello, Leticia Ferreira Pettenuzzo, Carlos Alexandre Netto, Moacir Wajner. Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. Behavioural brain research. 2009 Feb; 197(2):364-70. doi: 10.1016/j.bbr.2008.09.031. [PMID: 18950661]
  • Valeria Tiranti, Carlo Viscomi, Tatjana Hildebrandt, Ivano Di Meo, Rossana Mineri, Cecilia Tiveron, Michael D Levitt, Alessandro Prelle, Gigliola Fagiolari, Marco Rimoldi, Massimo Zeviani. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nature medicine. 2009 Feb; 15(2):200-5. doi: 10.1038/nm.1907. [PMID: 19136963]
  • Reena Jethva, Michael J Bennett, Jerry Vockley. Short-chain acyl-coenzyme A dehydrogenase deficiency. Molecular genetics and metabolism. 2008 Dec; 95(4):195-200. doi: 10.1016/j.ymgme.2008.09.007. [PMID: 18977676]
  • Christina B Pedersen, Steen Kølvraa, Agnete Kølvraa, Vibeke Stenbroen, Margrethe Kjeldsen, Regina Ensenauer, Ingrid Tein, Dietrich Matern, Piero Rinaldo, Christine Vianey-Saban, Antonia Ribes, Willy Lehnert, Ernst Christensen, Thomas J Corydon, Brage S Andresen, Søren Vang, Lars Bolund, Jerry Vockley, Peter Bross, Niels Gregersen. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Human genetics. 2008 Aug; 124(1):43-56. doi: 10.1007/s00439-008-0521-9. [PMID: 18523805]
  • Cetin Okuyaz, Fatih Süheyl Ezgü, Gürsel Biberoglu, Massimo Zeviani, Valeria Tiranti, Esat Yilgör. Severe infantile hypotonia with ethylmalonic aciduria: case report. Journal of child neurology. 2008 Jun; 23(6):703-5. doi: 10.1177/0883073807313048. [PMID: 18539996]
  • C M Westermann, L Dorland, D M Votion, M G M de Sain-van der Velden, I D Wijnberg, R J A Wanders, W G M Spliet, N Testerink, R Berger, J P N Ruiter, J H van der Kolk. Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. Neuromuscular disorders : NMD. 2008 May; 18(5):355-64. doi: 10.1016/j.nmd.2008.02.007. [PMID: 18406615]
  • C M Westermann, M G M de Sain-van der Velden, J H van der Kolk, R Berger, I D Wijnberg, J P Koeman, R J A Wanders, J A Lenstra, N Testerink, A B Vaandrager, C Vianey-Saban, C Acquaviva-Bourdain, L Dorland. Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis. Molecular genetics and metabolism. 2007 Aug; 91(4):362-9. doi: 10.1016/j.ymgme.2007.04.010. [PMID: 17540595]
  • Devin Oglesbee, Miao He, Nilanjana Majumder, Jerry Vockley, Ayesha Ahmad, Brad Angle, Barbara Burton, Joel Charrow, Regina Ensenauer, Can H Ficicioglu, Laura Davis Keppen, Deborah Marsden, Silvia Tortorelli, Si Houn Hahn, Dietrich Matern. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genetics in medicine : official journal of the American College of Medical Genetics. 2007 Feb; 9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. [PMID: 17304052]
  • Peter Bross, Zhijie Li, Jakob Hansen, Jens Jacob Hansen, Marit Nyholm Nielsen, Thomas Juhl Corydon, Costa Georgopoulos, Debbie Ang, Jytte Banner Lundemose, Klary Niezen-Koning, Hans Eiberg, Huanming Yang, Steen Kølvraa, Lars Bolund, Niels Gregersen. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. Journal of human genetics. 2007; 52(1):56-65. doi: 10.1007/s10038-006-0080-7. [PMID: 17072495]
  • Maja Di Rocco, Ubaldo Caruso, Egill Briem, Andrea Rossi, Anna E M Allegri, Davide Buzzi, Valeria Tiranti. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Molecular genetics and metabolism. 2006 Dec; 89(4):395-7. doi: 10.1016/j.ymgme.2006.05.010. [PMID: 16828325]
  • B Merinero, C Pérez-Cerdá, P Ruiz Sala, I Ferrer, M J García, M Martínez Pardo, A Belanger-Quintana, J L de la Mota, E Martin-Hernández, C Vianey-Saban, C Bischoff, N Gregersen, M Ugarte. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. Journal of inherited metabolic disease. 2006 Oct; 29(5):685. doi: 10.1007/s10545-006-0342-8. [PMID: 16906473]
  • Bianca T van Maldegem, Marinus Duran, Ronald J A Wanders, Klary E Niezen-Koning, Marije Hogeveen, Lodewijk Ijlst, Hans R Waterham, Frits A Wijburg. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA. 2006 Aug; 296(8):943-52. doi: 10.1001/jama.296.8.943. [PMID: 16926354]
  • Ching Yan Chu, Xin Xiao, Xiao Guang Zhou, Tze Kin Lau, Michael Scott Rogers, Tai Fai Fok, Lap Kay Law, Chi Pui Pang, Chi Chiu Wang. Metabolomic and bioinformatic analyses in asphyxiated neonates. Clinical biochemistry. 2006 Mar; 39(3):203-9. doi: 10.1016/j.clinbiochem.2006.01.006. [PMID: 16460720]
  • Brian Turpin, Joseph D Tobias. Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency. Paediatric anaesthesia. 2005 Sep; 15(9):771-7. doi: 10.1111/j.1460-9592.2005.01507.x. [PMID: 16101709]
  • Neil Gordon. Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. Developmental medicine and child neurology. 2005 Mar; 47(3):207-10. doi: 10.1017/s0012162205000381. [PMID: 15739728]
  • Karen A McGowan, William L Nyhan, Bruce A Barshop, Robert K Naviaux, Alice Yu, Richard H Haas, Jeannette J Townsend. The role of methionine in ethylmalonic encephalopathy with petechiae. Archives of neurology. 2004 Apr; 61(4):570-4. doi: 10.1001/archneur.61.4.570. [PMID: 15096407]
  • Yan Liang, Li Liu, Hong Wei, Xiao-ping Luo, Mu-ti Wang. [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. Zhonghua er ke za zhi = Chinese journal of pediatrics. 2003 Dec; 41(12):916-20. doi: . [PMID: 14723814]
  • Sarah P Young, Dietrich Matern, Niels Gregersen, Robert D Stevens, Deeksha Bali, Hui-Ming Liu, Dwight D Koeberl, David S Millington. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clinica chimica acta; international journal of clinical chemistry. 2003 Nov; 337(1-2):103-13. doi: 10.1016/j.cccn.2003.07.006. [PMID: 14568186]
  • Levinus A Bok, Peter Vreken, Frits A Wijburg, Ronald J A Wanders, Niels Gregersen, Morten J Corydon, Hans R Waterham, Marinus Duran. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics. 2003 Nov; 112(5):1152-5. doi: 10.1542/peds.112.5.1152. [PMID: 14595061]
  • J Seidel, S Streck, K Bellstedt, C Vianey-Saban, C B Pedersen, J Vockley, H Korall, M Roskos, T Deufel, K F Trefz, A C Sewell, E Kauf, F Zintl, W Lehnert, N Gregersen. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. Journal of inherited metabolic disease. 2003; 26(1):37-42. doi: 10.1023/a:1024019311933. [PMID: 12872838]
  • X Fu, P Rinaldo, S H Hahn, H Kodama, S Packman. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. Journal of inherited metabolic disease. 2003; 26(1):55-66. doi: 10.1023/a:1024027630589. [PMID: 12872841]
  • Salvatore Grosso, Rosa Mostardini, Maria Angela Farnetani, Massimo Molinelli, Rosario Berardi, Carlo Dionisi-Vici, Cristiano Rizzo, Guido Morgese, Paolo Balestri. Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. Journal of neurology. 2002 Oct; 249(10):1446-50. doi: 10.1007/s00415-002-0880-4. [PMID: 12382164]
  • Tien V Nguyen, Charles Riggs, Dusica Babovic-Vuksanovic, Yong-Sung Kim, John F Carpenter, Thomas P Burghardt, Niels Gregersen, Jerry Vockley. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. Biochemistry. 2002 Sep; 41(37):11126-33. doi: 10.1021/bi026030r. [PMID: 12220177]
  • N H Birkebaek, H Simonsen, N Gregersen. Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. Acta paediatrica (Oslo, Norway : 1992). 2002; 91(4):480-2. doi: 10.1080/080352502317371751. [PMID: 12061367]
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