This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Riboflavin transporter deficiency is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Symptoms may begin from infancy to early adulthood and worsen over time. When the condition begins in infancy, the first symptom often is breathing problems, which can be life-threatening. When it begins in childhood or early adulthood, sensorineural deafness is usually the first symptom. Other signs and symptoms may include vocal cord paralysis, droopy eyelids, facial weakness, slurred speech, difficulty swallowing, visual problems, autonomic dysfunction, breathing difficulties, and weakness of the neck, shoulder, and limbs.
Riboflavin transporter deficiency may be caused by mutations in the SLC52A2 or SLC52A3 genes. Inheritance is autosomal recessive. Treatment with riboflavin therapy has been used since 2010 and appears to be effective and possibly life-saving. Without treatment, affected infants typically survive less than one year.
For more information, visit GARD.