Molecular characterization of maple syrup urine disease patients from Tunisia

► First molecular characterization of maple syrup urine disease Tunisian patients ► Identification of a new MSUD causal mutation in BCKDHB gene (c.716A>G; p.Glu239Gly) ► Evaluation of the functional impact of the mutation p.Glu239Gly of BCKDHB gene ► Identification of a new MSUD causal mutation in DBT (c.1333_1336delAATG; p.Asn445X)