The little brother of a young boy with riboflavin transporter deficiency who had the same mutation in the SLC52A3 gene responsible for the disease was given riboflavin supplements in utero.
- From the 28th week of pregnancy, the mother took 200 mg of riboflavin every four hours with no adverse effects.
- The newborn had no neurological deficits and, at the age of two, the little boy showed no signs of bulbospinal muscular atrophy.
Given the safety of high-dose riboflavin, the authors, like others before them, conclude that riboflavin transporter deficiencies should be treated as early as possible, in particular without waiting for genetic confirmation from the siblings of an affected person.
