ETF dehydrogenase advances in molecular genetics and impact on treatment

References

• Abdenur JE, Chamoles NA, Schenone AB, Jorge L, Guinle A, Bernard C, Levandovskiy V, Fusta M, Lavorgna S. 2001. Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment. Pediatr Res. 50(1):61–66.
   PubMed Web of Science ®Google Scholar
• Angelini C, Pennisi E, Missaglia S, Tavian D. 2019. Metabolic lipid muscle disorders: biomarkers and treatment. Ther Adv Neurol Disord. 12:1756286419843359.
   Web of Science ®Google Scholar
• Angelini C, Tavian D, Missaglia S. 2018. Heterogeneous phenotypes in lipid storage myopathy due to ETFDH gene mutations. JIMD Rep. 38:33–40.
   PubMedGoogle Scholar
• Angle B, Burton BK. 2008. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 93(1):36–39.
   PubMed Web of Science ®Google Scholar
• Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, et al. 2016. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease. Rev Neurol (Paris). 172(3):231–241.
   PubMed Web of Science ®Google Scholar
• Beresford MW, Pourfarzam M, Turnbull DM, Davidson JE. 2006. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. Neuromuscul Disord. 16(4):269–273.
   PubMed Web of Science ®Google Scholar
• Chen H-Z, Jin M, Cai N-Q, Lin X-D, Liu X-Y, Xu L-Q, Lin M-T, Lin F, Wang N, Wang Z-Q, et al. 2019. Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G > A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency. Chin Med J (Engl)). 132(13):1615–1618.
   PubMed Web of Science ®Google Scholar
• Cheng YY, Tang Y, Liu AJ, Wei L, Lin L, Zhang J, Zhi L. 2017. Clinical features and ETFDH mutations of children with late onset glutaric aciduria type II: a report of two cases. Zhongguo Dang Dai Er Ke Za Zhi. 19(9):975–978.
   PubMedGoogle Scholar
• Chien YH, Lee NC, Chao MC, Chen LC, Chen LH, Chien CC, Ho HC, Suen JH, Hwu WL. 2013. Fatty Acid oxidation disorders in a chinese population in Taiwan. JIMD Rep. 11:165–172.
   PubMedGoogle Scholar
• Chokchaiwong S, Kuo YT, Lin SH, Hsu YC, Hsu SP, Liu YT, Chou AJ, Kao SH. 2019. Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation. Free Radic Res. 13:1–11.
   Google Scholar
• Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK. 2012. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. Hum Mol Genet. 21(15):3435–3448.
   PubMed Web of Science ®Google Scholar
• Dai D, Wen F, Zhou S, Chen S. 2016. Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 33(2):191–194.
   PubMedGoogle Scholar
• Er TK, Chen CC, Liu YY, Chang HC, Chien YH, Chang JG, Hwang JK, Jong YJ. 2011. Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif . BMC Struct Biol. 11:43
   PubMed Web of Science ®Google Scholar
• Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, et al. 2018. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 16:15–19.
   PubMed Web of Science ®Google Scholar
• Fitzgerald M, Crushell E, Hickey C. 2013. Cyclic vomiting syndrome masking a fatal metabolic disease. Eur J Pediatr. 172(5):707–710.
   PubMed Web of Science ®Google Scholar
• Frerman FE, Goodman S. 2001. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric aciduria type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill. pp. 2357–2365.
   Google Scholar
• Fu HX, Liu XY, Wang ZQ, Jin M, Wang D, He JJ, Lin MT, Wang N. 2016. Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. Neurol Sci. 37(7):1099–1105.
   PubMed Web of Science ®Google Scholar
• Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Palmafy B, Kale G, Tokatli A, Quinzii C, et al. 2007. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 130(Pt 8):2037–2044.
   PubMedGoogle Scholar
• Goh LL, Lee Y, Tan ES, Lim JSC, Lim CW, Dalan R. 2018. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report. BMC Med Genomics. 11(1):37.
   PubMedGoogle Scholar
• Goodman SI, Binard RJ, Woontner MR, Frerman FE. 2002. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab. 77(1-2):86–90.
   PubMed Web of Science ®Google Scholar
• Goodman SI, Frerman FE. 1984. Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency). J Inher Metab Dis. 7(S1):33–37.
   PubMedGoogle Scholar
• Gregersen N, Wintzensen H, Christensen SK, Christensen MF, Brandt NJ, Rasmussen K. 1982. C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res. 16(10):861–868.
   PubMed Web of Science ®Google Scholar
• Grünert SC. 2014. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis. 9:117
   PubMed Web of Science ®Google Scholar
• Hanukoglu I. 2015. Proteopedia: Rossmann fold: A beta-alpha-beta fold at dinucleotide binding sites. Biochem Mol Biol Educ. 43(3):206–209.
   PubMed Web of Science ®Google Scholar
• Hirano K, Tanaka T, Ikeda Y, Yamaguchi S, Zaima N, Kobayashi K, Suzuki A, Sakata Y, Sakata Y, Kobayashi K, et al. 2014. Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy. Biochem Biophys Res Commun. 443(2):574–579.
   PubMed Web of Science ®Google Scholar
• Hong D, Yu Y, Wang Y, Xu Y, Zhang J. 2018. Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report. BMC Neurol. 18(1):219
   PubMedGoogle Scholar
• Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, et al. 2006. Coenzyme Q10 deficiency and isolated myopathy. Neurology. 66(2):253–255.
   PubMed Web of Science ®Google Scholar
• Hu G, Zeng J, Wang C, Zhou W, Jia Z, Yang J, Zheng B. 2020. A synonymous variant c.579A > G in the ETFDH gene caused exon skipping in a patient with late-onset multiple acyl-CoA dehydrogenase deficiency: a case report. Front Pediatr. 8:118.
   PubMed Web of Science ®Google Scholar
• Huang K, Duan HQ, Li QX, Luo YB, Yang H. 2020. Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy. Neuropathology. 40(6):531–539.
   PubMed Web of Science ®Google Scholar
• Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M. 2010. Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Brain Dev. 32(8):669–672.
   PubMed Web of Science ®Google Scholar
• Izumi R, Suzuki N, Nagata M, Hasegawa T, Abe Y, Saito Y, Mochizuki H, Tateyama M, Aoki M. 2011. A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. Intern Med. 50(21):2663–2668.
   PubMed Web of Science ®Google Scholar
• Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A. 2019. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era. Eur J Pediatr. 178(3):387–394.
   PubMed Web of Science ®Google Scholar
• Joshi PR, Zierz S. 2020. Muscle carnitine palmitoyltransferase II (CPT II) deficiency: a conceptual approach. Molecules. 25(8):1784.
   Web of Science ®Google Scholar
• Kaminsky P, Acquaviva-Bourdain C, Jonas J, Pruna L, Chaloub GE, Rigal O, Grignon Y, Vianey-Saban C. 2011. Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency. Muscle Nerve. 43(3):444–446.
   PubMed Web of Science ®Google Scholar
• Kim YJ, Ko JM, Song J, Lee KA. 2018. Clinical features of multiple acyl-CoA dehydrogenase deficiency with ETFDH variants in the first Korean cases. Ann Lab Med. 38(6):616–618.
   PubMed Web of Science ®Google Scholar
• Lammer AB, Rolinski B, Ahting U, Heuss D. 2011. Multiple acyl-CoA-dehydrogenase deficiency (MADD)-a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH . J Neurol Sci. 307(1-2):166–167.
   PubMed Web of Science ®Google Scholar
• Lan MY, Fu MH, Liu YF, Huang CC, Chang YY, Liu JS, Peng CH, Chen SS. 2010. High frequency of ETFDH c.250G > A mutation in Taiwanese patients with late-onset lipid storage myopathy . Clin Genet. 78(6):565–569.
   PubMed Web of Science ®Google Scholar
• Liang WC, Ohkuma A, Hayashi YK, Lopez LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I. 2009. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord. 19(3):212–216.
   PubMed Web of Science ®Google Scholar
• Liang WC, Tsai KB, Lai CL, Chen LH, Jong YJ. 2004. Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. Pediatr Neurol. 31(3):218–221.
   PubMed Web of Science ®Google Scholar
• Lin Y, Zheng Q, Zheng T, Zheng Z, Lin W, Fu Q. 2019. Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. Clin Chim Acta. 494:106–111.
   PubMed Web of Science ®Google Scholar
• Liu XY, Jin M, Wang ZQ, Wang DN, He JJ, Lin MT, Fu HX, Wang N. 2016. Skeletal muscle magnetic resonance imaging of the lower limbs in late-onset lipid storage myopathy with electron transfer flavoprotein dehydrogenase gene mutations. Chin Med J. 129(12):1425–1431.
   PubMed Web of Science ®Google Scholar
• Liu XY, Wang ZQ, Wang DN, Lin MT, Wang N. 2016. A historical cohort study on the efficacy of glucocorticoids and riboflavin among patients with late-onset multiple acyl-CoA dehydrogenase deficiency. Chin Med J (Engl). 129(2):142–146.
   PubMed Web of Science ®Google Scholar
• Loehr JP, Goodman SI, Frerman FE. 1990. Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes. Pediatr Res. 27(3):311–315.
   PubMed Web of Science ®Google Scholar
• Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, et al. 2020. Multiple acyl-COA dehydrogenase deficiency in elderly carriers. J Neurol. 267(5):1414–1419.
   PubMed Web of Science ®Google Scholar
• Madsen KL, Preisler N, Buch AE, Stemmerik MG, Laforêt P, Vissing J. 2019. Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency. JIMD Rep. 46(1):79–84.
   PubMedGoogle Scholar
• Martínez-Limón A, Alriquet M, Lang WH, Calloni G, Wittig I, Vabulas RM. 2016. Recognition of enzymes lacking bound cofactor by protein quality control. Proc Natl Acad Sci USA. 113(43):12156–12161.
   PubMed Web of Science ®Google Scholar
• Matsuzaka Y, Kishi S, Aoki Y, Komaki H, Oya Y, Takeda SI, Hashido K. 2014. Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy. Environ Health Prev Med. 19(6):452–458.
   PubMed Web of Science ®Google Scholar
• Missaglia S, Coleman RA, Mordente A, Tavian D. 2019. Neutral lipid storage diseases as cellular model to study lipid droplet function. Cells. 8(2):187.
   PubMed Web of Science ®Google Scholar
• Missaglia S, Pegoraro V, Marozzo R, Tavian D, Angelini C. 2020. Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients. Eur J Transl Myol. 30 (1):8880–8825.
   PubMed Web of Science ®Google Scholar
• Missaglia S, Tavian D, Moro L, Angelini C. 2018. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Lipids Health Dis. 17(1):254.
   PubMedGoogle Scholar
• Moore SJ, Haites NE, Broom I, White I, Coleman RJ, Pourfarzam M, Morris AA. 1998. Acylcarnitine analysis in the investigation of myopathy. J Inherit Metab Dis. 21(4):427–428.
   PubMed Web of Science ®Google Scholar
• Nilipour Y, Fatehi F, Sanatinia S, Bradshaw A, Duff J, Lochmüller H, Horvath R, Nafissi S. 2020. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. J Neurol Sci. 411:116707.
   PubMed Web of Science ®Google Scholar
• Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, et al. 2009. Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve. 39(3):333–342.
   PubMed Web of Science ®Google Scholar
• Olsen RKJ, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. 2003. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat. 22(1):12–23.
   PubMed Web of Science ®Google Scholar
• Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, et al. 2016. Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am J Hum Genet. 98(6):1130–1145.
   PubMed Web of Science ®Google Scholar
• Olsen RKJ, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JCS, Cornelius N, et al. 2007. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 130(Pt 8):2045–2054.
   PubMedGoogle Scholar
• Pan XQ, Chang XL, Zhang W, Meng HX, Zhang J, Shi JY, Guo JH. 2020. Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report. World J Clin Cases. 8(5):995–1001.
   PubMed Web of Science ®Google Scholar
• Pegoraro V, Missaglia S, Marozzo R, Tavian D, Angelini C. 2020. MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy. Muscle Nerve. 61(2):253–257.
   PubMed Web of Science ®Google Scholar
• Pennisi EM, Garibaldi M, Antonini G. 2018. Lipid myopathies. JCM. 7(12):472.
   Google Scholar
• Pennisi EM, Missaglia S, Dimauro S, Bernardi C, Akman HO, Tavian D. 2015. A myopathy with unusual features caused by PNPLA2 gene mutations. Muscle Nerve. 51(4):609–613.
   PubMed Web of Science ®Google Scholar
• Pollard LM, Williams NR, Espinoza L, Wood TC, Spector EB, Schroer RJ, Holden KR. 2010. Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency. J Child Neurol. 25(8):954–960.
   PubMed Web of Science ®Google Scholar
• Prasad M, Hussain S. 2015. Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. J Child Neurol. 30(1):96–99.
   PubMed Web of Science ®Google Scholar
• Rabenstein M, Weis J, Abicht A, Fink GR, Lehmann HC, Wunderlich G. 2020. Multiple acyl-CoA dehydrogenase deficiency/glutaric aciduria type 2: difficult diagnosis, easy to treat . Nervenarzt. 91(4):349–352.
   PubMed Web of Science ®Google Scholar
• Ruzicka FJ, Beiner H. 1977. A new iron–sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway. J Biol Chem. 252(23):8440–8445.
   PubMed Web of Science ®Google Scholar
• Scheicht D, Werthmann ML, Zeglam S, Holtmeier J, Holtmeier W, Strunk J. 2013. Muscle weakness and early stages of liver failure in a 22-year-old man. Internist (Berl). 54(8):1016–1022.
   PubMed Web of Science ®Google Scholar
• Shioya A, Takuma H, Yamaguchi S, Ishii A, Hiroki M, Fukuda T, Sugie H, Shigematsu Y, Tamaoka A. 2014. Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene. J Neurol Sci. 15346(1-2):350–352.
   PubMed Web of Science ®Google Scholar
• Siracusa J, Koulmann N, Banzet S. 2018. Circulating myomiRs: a new class of biomarkers to monitor skeletal muscle in physiology and medicine. J Cachexia Sarcopenia Muscle. 9(1):20–27.
   PubMed Web of Science ®Google Scholar
• Sugai F, Baba K, Toyooka K, Liang WC, Nishino I, Yamadera M, Sumi H, Fujimura H, Nishikawa Y. 2012. Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase. Neuromuscul Disord. 22(2):159–161.
   PubMed Web of Science ®Google Scholar
• Swanson MA, Usselman RJ, Frerman FE, Eaton GR, Eaton SS. 2008. The iron-sulfur cluster of electron transfer flavoprotein-ubiquinone oxidoreductase is the electron acceptor for electron transfer flavoprotein. Biochemistry. 47(34):8894–8901.
   PubMed Web of Science ®Google Scholar
• Tasca E, Pegoraro V, Merico A, Angelini C. 2016. Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS. Clin Neuropathol. 35(1):22–30.
   PubMed Web of Science ®Google Scholar
• van der Westhuizen FH1, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M. 2018. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. J Neurol Sci. 384:121–125.
   PubMed Web of Science ®Google Scholar
• Vengalil S, Preethish-Kumar V, Polavarapu K, Christopher R, Gayathri N, Natarajan A, Manjunath M, Nashi S, Prasad C, Nalini A. 2017. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome. Neuromuscul Disord. 27(11):986–996.
   PubMed Web of Science ®Google Scholar
• Wang C, Lv H, Xu X, Ma Y, Li Q. 2020. Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. Mol Med Rep. 22(5):4396–4402.
   PubMed Web of Science ®Google Scholar
• Wang J, Wu JC, Yu XE, Han YZ, Yang RM. 2018. Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: a case report. Medicine (Baltimore). 97(48):e13153
   PubMed Web of Science ®Google Scholar
• Wang Z, Hong D, Zhang W, Li W, Shi X, Zhao D, Yang X, Lv H, Yuan Y. 2016. Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord. 26(2):170–175.
   PubMed Web of Science ®Google Scholar
• Wang ZQ, Chen XJ, Murong SX, Wang N, Wu ZY. 2011. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G > A. J Mol Med. 89(6):569–576.
   PubMed Web of Science ®Google Scholar
• Wasant P, Kuptanon C, Vattanavicharn N, Liammongkolkul S, Ratanarak P, Sangruchi T, Yamaguchi S. 2010. Glutaric aciduria type 2, late onset type in Thai siblings with myopathy. Pediatr Neurol. 43(4):279–282.
   PubMed Web of Science ®Google Scholar
• Watmough NJ, Frerman FE. 2010. The electron transfer flavoprotein: ubiquinone oxidoreductases. Biochim Biophys Acta. 1797(12):1910–1916.
   PubMed Web of Science ®Google Scholar
• Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C. 2010. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry. 81(2):231–236.
   PubMed Web of Science ®Google Scholar
• Wen B, Li D, Shan J, Liu S, Li W, Zhao Y, Lin P, Zheng J, Li D, Gong Y, et al. 2013. Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation. Mol Genet Metab. 109(2):154–160.
   PubMed Web of Science ®Google Scholar
• Whitaker CH, Felice KJ, Silvers D, Wu Q. 2015. Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. Muscle Nerve. 52(2):289–293.
   PubMed Web of Science ®Google Scholar
• Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM. 2010. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. J Inherit Metab Dis. 33 Suppl 3 (0 3):S481–S487.
   PubMedGoogle Scholar
• Xi J, Wen B, Lin J, Zhu W, Luo S, Zhao C, Li D, Lin P, Lu J, Yan C. 2014. Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 37(3):399–404.
   PubMed Web of Science ®Google Scholar
• Xiao C, Astiazaran‐Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. 2020. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet. 182(10):2426–2431.
   PubMed Web of Science ®Google Scholar
• Xu Y, Zhou Y, Zhang K, Li L, Kayoumu A, Chen L, Wang Y, Lu Z. 2017. Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II. Lipids Health Dis. 16(1):185
   PubMedGoogle Scholar
• Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, et al. 2016. Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: characteristics in comparison with pediatric cases. Brain Dev. 38(3):293–301.
   PubMed Web of Science ®Google Scholar
• Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S. 2008. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab. 94(1):61–67.
   PubMed Web of Science ®Google Scholar
• Zhang J, Frerman FE, Kim JJ. 2006. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci USA. 103(44):16212–16217.
   PubMed Web of Science ®Google Scholar
• Zhao YW, Liu XJ, Zhang W, Wang ZX, Yuan Y. 2018. Muscle magnetic resonance imaging for the differentiation of multiple acyl‑CoA dehydrogenase deficiency and immune‑mediated necrotizing myopathy. Chin Med J (Engl). 131(2):144–150.
   PubMed Web of Science ®Google Scholar
• Zhu M, Zhu X, Qi X, Weijiang D, Yu Y, Wan H, Hong D. 2014. Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients. J Hum Genet. 59(5):256–261.
   PubMed Web of Science ®Google Scholar