Katsuyuki Yokoi   Yoko Nakajima   Yuta Sudo   Tasuku Mariya   Rie Kawamura   Makiko Tsutsumi   Hidehito Inagaki   Tetsushi Yoshikawa   Tetsuya Ito   Hiroki Kurahashi   
JIMD reports 63(6) 575-580 2022年11月
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched-chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched-chain α-ketoacid deh...