Riboflavin Transporter Deficiency (RTD) is a rare, life-shortening, neurodegenerative genetic disorder with onset occurring most often in childhood. RTD was formerly known as Brown-Vialetto-Van Laere (BVVL) or Fazio-Londe (FL) syndrome. First reported as an “infantile” form of ALS, RTD affects motor and sensory nerve cells (neurons), taking away a person’s ability to hear, see, move, walk, eat and breathe. RTD knows no ethnic boundaries and cases of RTD have been reported in every corner of the globe. Despite the physically devastating effects of the disease, the mental capabilities of people with RTD remain completely intact. Daily treatment with riboflavin (vitamin B2) has recently shown great promise in slowing down the progression of RTD. More research is desperately needed to advance treatment, which will eventually lead to a cure for this devastating disease.
