Riboflavin deficiency is the common vitamin deficiency. Riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism. Genetic variations in the riboflavin metabolism or transportation of riboflavin can cause multiple acyl-CoA dehydrogenation deficiency [DS:H00178]. The most common variations are located in the riboflavin transporter 2 (RFVT2) and 3 (RFVT3), that are highly expressed in brain and intestinal tissues, respectively [DS:H01903]. Deficiency of RFVT1, encoded by the SLC52A1 gene, highly expressed in the placenta, has also been reported.
