"we identified seven novel genetic variants: p.Leu549Pro p.Glu564* p.Leu641Pro in MUT p.Tyr206Cys in PCCB p.His194Arg p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants"xsd:string