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 type of degenerative nerve disease generally characterized by sensorineural deafness, paralysis of the cranial nerves, and lower and upper motor neuon disease. It includes the formerly recognized disorders: Brown-Vialetto-Van Laere (BVVL) syndrome and Fazio-Londe syndrome, which is similar to BVVL syndrome but lacks deafness. Initial symptoms occur in infancy to early adulthood and progress with time. The rate of progression is different from person to person. Signs and symptoms may include vocal cord paralysis, drooping eyelids, facial weakness, slurred speech, difficulty swallowing, diminishing eye sight, neck and shoulder weakness, weakness in the arms and legs, gait problems, autonomic dysfunction, and difficulty breathing. It is caused by mutations in theSLC52A2 gene (riboflavin transporter deficiency neuronopathy, type 2) or mutations in the SLC52A3 gene (riboflavin transporter deficiency neuronopathy, type 3) and it is inherited in an autosomal recessive pattern. Treatment is made with high doses of riboflavin and is usually effective.
Last updated: 8/10/2015
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
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