Newly Identified Forms of Electron Transfer Flavoprotein Deficiency in Two Patients with Glutaric Aciduria Type II

@article{Yamaguchi1991NewlyIF,
  title={Newly Identified Forms of Electron Transfer Flavoprotein Deficiency in Two Patients with Glutaric Aciduria Type II},
  author={Seiji Yamaguchi and Tadao Orii and Yasuyuki Suzuki and Keiko Maeda and Mieko Oshima and Takashi Hashimoto},
  journal={Pediatric Research},
  year={1991},
  volume={29},
  pages={60-63}
}
ABSTRACT: Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consisting of an α-subunit, β-ETF, a α α-subunit, β-ETF. We used pulse-chase experiments to examine the biosynthesis of ETF in fibroblasts from two patients with GA II… CONTINUE READING
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