Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients

Maple syrup urine disease (MSUD) results from mutations affecting different subunits of the mitochondrial branched-chain α-ketoacid dehydrogenase complex. In this study, we identified seven novel mutations in MSUD patients from Israel. These include C219W-α (TGC to TGG) in the E1α subunit; H156Y-β (CAT to TAT), V69G-β (GTT to GGT), IVS 9 del[-7:-4], and 1109 ins 8bp (exon 10) in the E1β subunit; and H391R (CAC to CGC) and S133stop (TCA to TGA)...