The Japanese Biochemical Society/The Molecular Biology Society of Japan

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[3P1177(4T特-01)] Characterization of ECHS1 and a mild form of human ECHS1 deficiency

〇Kenichiro Yamada1, Kaori Aiba2, Yasuyuki Kitaura3, Yusuke Kondo3, Noriko Nomura1, Yuji Nakamura2, Daisuke Fukushi1, Kei Murayama4, Yoshiharu Shimomura3, James Pitt5, Seiji Yamaguchi6, Kenji Yokochi7, Nobuaki Wakamatsu1 (1.Dept. Genet., Inst. for Development. Res., Aichi Human Serv. Ctr., 2.Dept. Pediatr., Toyohashi Municipal Hosp., 3.Dept. Applied Mol. Biosci., Grad. Sch. Bioagricult. Sci., Nagoya Univ., 4.Dept. Metabol., Chiba Children's Hosp., 5.Victorian Clin. Genet. Serv., Murdoch Childrens Res. Inst. Australia, 6.Dept. Pediatr., Shimane Univ., Facul. of Med., 7.Dept. Pediatr. Neurol., Seirei-Mikatahara General Hosp.)

ECHS1, mitochondrial fatty acid beta-oxidation, valine catabolic pathway, N-acetyl-S-(2-carboxypropyl)cysteine

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