BIOMAT Database Logo BIOMAT Database Logo

A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene. 2012

Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu

UI MeSH Term Description Entries
D007506 Iron-Sulfur Proteins A group of proteins possessing only the iron-sulfur complex as the prosthetic group. These proteins participate in all major pathways of electron transport: photosynthesis, respiration, hydroxylation and bacterial hydrogen and nitrogen fixation. Iron-Sulfur Protein,Iron Sulfur Proteins,Iron Sulfur Protein,Protein, Iron-Sulfur,Proteins, Iron Sulfur,Proteins, Iron-Sulfur,Sulfur Proteins, Iron
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000587 Oxidoreductases Acting on CH-NH Group Donors Enzymes catalyzing the dehydrogenation of secondary amines, introducing a C Secondary Amine Oxidoreductases,Amine Oxidoreductases, Secondary Amine,Amine Oxidoreductases, Secondary,Oxidoreductases Acting on CH NH Group Donors,Oxidoreductases, Secondary Amine
D044927 Electron-Transferring Flavoproteins Flavoproteins that serve as specific electron acceptors for a variety of DEHYDROGENASES. They participate in the transfer of electrons to a variety of redox acceptors that occur in the respiratory chain. ET Flavoprotein,Electron Transfer Flavoprotein,Electron-Transferring Flavoprotein,Electron Transferring Flavoprotein,Electron Transferring Flavoproteins,Flavoprotein, ET,Flavoprotein, Electron Transfer,Flavoprotein, Electron-Transferring,Flavoproteins, Electron-Transferring,Transfer Flavoprotein, Electron
D054069 Multiple Acyl Coenzyme A Dehydrogenase Deficiency An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). ETFA Deficiency,ETFB Deficiency,ETFDH Deficiency,Electron Transfer Flavoprotein Alpha Subunit Deficiency,Electron Transfer Flavoprotein Beta Subunit Deficiency,Electron Transfer Flavoprotein Deficiency,Electron Transfer Flavoprotein Dehydrogenase Deficiency,Ethylmalonic-Adipic Aciduria,Ethylmalonic-Adipicaciduria,Glutaric Acidemia Type II,Glutaric Acidemia, Type 2,Glutaric Aciduria II,Glutaric Aciduria IIA,Glutaric Aciduria IIB,Glutaric Aciduria IIC,Glutaric Aciduria Type 2,Glutaric Aciduria Type II,Glutaric Aciduria, Type 2,MADD (Multiple Acyl-CoA Dehydrogenase Deficiency),Multiple Acyl-CoA Dehydrogenase Deficiency,Multiple FAD Dehydrogenase Deficiency,Aciduria, Ethylmalonic-Adipic,Acidurias, Ethylmalonic-Adipic,ETFA Deficiencies,ETFB Deficiencies,ETFDH Deficiencies,Ethylmalonic Adipic Aciduria,Ethylmalonic Adipicaciduria,Ethylmalonic-Adipic Acidurias,MADD (Multiple Acyl CoA Dehydrogenase Deficiency),MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency),Multiple Acyl CoA Dehydrogenase Deficiency

Related Publications

Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
December 2019, BMC neurology,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
January 2015, Journal of the neurological sciences,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
June 2009, Clinica chimica acta; international journal of clinical chemistry,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
September 2018, Molecular genetics and metabolism reports,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
March 2018, The International journal of neuroscience,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
November 2018, Lipids in health and disease,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.
January 2022, Frontiers in neurology,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
August 2007, Brain : a journal of neurology,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
March 2009, Neuromuscular disorders : NMD,
Zhang-Ning Zhao, and Meng-Xin Bao, and Gao-Ting Ma, and Xiao-Min Liu, and Wen-Juan Xu, and Zhong-Wen Sun, and Huan Chen, and Mei-Jia Zhu
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
December 2003, Zhonghua er ke za zhi = Chinese journal of pediatrics,
Copied contents to your clipboard!