Mutations in the SLC52A3 gene (also known as BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2) are associated with the neurological and motor disorders characteristic of BVVLS, occurring mainly with progressive ponto-bulbar palsy and hearing loss.1 Here, SLC52A3 is linked to riboflavin transporter deficiency.