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[4T特-01(3P1177)] 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