What causes riboflavin transporter deficiency? Is genetic testing for this available? Who can I talk to if a diagnosis of riboflavin transporter deficiency is suspected in a friend or family member? How can I learn more about research?
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 theSLC52A2 or SLC52A3genes. 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.
Last updated: 3/8/2017
What causes riboflavin transporter deficiency?
Riboflavin transporter deficiency is caused by mutations in the SLC52A2 gene or the SLC52A3gene. Some authors have proposed a classification system of types of riboflavin transporter deficiency depending on the underlying genetic cause, with those having a mutation in the SLC52A2 gene classified as type 2 and those having a mutation in the SLC52A3 gene classified as type 3.
Last updated: 6/9/2016
Is genetic testing available for riboflavin transporter deficiency?
Who can I talk to if a diagnosis of riboflavin transporter deficiency is suspected in a friend or family member?
If you feel that you or someone you know may have riboflavin transporter deficiency we recommend that you speak with a neurologist, pediatric neurologist, and/or genetics professional. To find a specialist in your area, we recommend that you contact your primary doctor for a referral.
Last updated: 6/9/2016
How can I find a genetics professional in my area?