ETF dehydrogenase advances in molecular genetics and impact on treatment

S Missaglia, D Tavian, C Angelini - Critical reviews in biochemistry …, 2021 - Taylor & Francis
Electron transfer flavoprotein dehydrogenase, also called ETF-ubiquinone oxidoreductase
(ETF-QO), is a protein localized in the inner membrane of mitochondria, playing a central …

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies

M Mereis, RJA Wanders, M Schoonen… - The international journal …, 2021 - Elsevier
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II
(GAII), is a group of clinically heterogeneous disorders caused by mutations in electron …

[HTML][HTML] Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

SF Kingsmore, A Henderson, MJ Owen… - NPJ genomic …, 2020 - nature.com
Understanding causes of infant mortality shapes public health policy and prioritizes
diseases for investments in surveillance, intervention and medical research. Rapid genomic …

[HTML][HTML] New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases

C Murgia, A Dehlia, MA Guthridge - Nutrition & Metabolism, 2023 - Springer
Riboflavin, or vitamin B2, is an essential nutrient that serves as a precursor to flavin adenine
dinucleotide (FAD) and flavin mononucleotide (FMN). The binding of the FAD and/or FMN …

[HTML][HTML] Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

W Chen, Y Zhang, Y Ni, S Cai, X Zheng, FL Mastaglia… - BMC neurology, 2019 - Springer
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-
responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH …

[HTML][HTML] Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

S Missaglia, D Tavian, L Moro, C Angelini - Lipids in Health and Disease, 2018 - Springer
Background Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is
associated with multiple acyl-CoA dehydrogenase deficiency (MADD). This disorder is an …

[HTML][HTML] Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

X Fan, B Xie, J Zou, J Luo, Z Qin, AM D'Gama… - Molecular genetics and …, 2018 - Elsevier
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of
fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or …

Isotope dilution method for determination of vitamin B2 in human plasma using liquid chromatography–tandem mass spectrometry

M Diniz, N Dias, F Andrade, B Paulo… - Journal of Chromatography …, 2019 - Elsevier
Vitamin B2 (riboflavin) is an essential constituent of the coenzymes flavin mononucleotide
and flavin adenine dinucleotide and is critical for human metabolism and energy production …

Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China

Y Lin, W Zhang, Z Chen, C Lin, W Lin, Q Fu… - Journal of Pediatric …, 2021 - degruyter.com
Objectives Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive
disorder of fatty acid, amino acid and choline metabolism. Late-onset MADD is caused by …

Expression and significance of ETFDH in hepatocellular carcinoma

Y Wu, X Zhang, R Shen, J Huang, X Lu, G Zheng… - … -Research and Practice, 2019 - Elsevier
The ETFDH (electron transfer flavoprotein dehydrogenase) gene mutations are reported to
be a major cause of riboflavin-responsive multiple acyl-coenzyme A dehydrogenation …