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Description

Mutations in critical transporter and enzyme genes disrupt these steps and underlie a spectrum of neurological disorders collectively termed riboflavin-responsive neurometabolic diseases. A representative example is riboflavin transporter deficiency (RTD), caused by loss-of-function mutations in SLC52A2 and SLC52A3 , which encode the riboflavin transporters RFVT2 and RFVT3, respectively