Riboflavin transporter deficiency

What causes riboflavin transporter deficiency?

Riboflavin transporter deficiency is caused by mutations in the SLC52A2 gene or the SLC52A3 _gene. 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 on 05-01-20

Is genetic testing available for riboflavin transporter deficiency?

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a healthcare provider or a genetics professional. Please see a list of laboratories offering the genetic test for riboflavin transporter deficiency.

Last updated on 05-01-20

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 on 05-01-20

How can I learn more about research studies enrolling people with riboflavin transporter deficiency?

To learn about research opportunities and registries, review information available on the research section of our page for this disorder.

Last updated on 05-01-20

What is riboflavin transporter deficiency?

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.

Last updated on 05-01-20

How might riboflavin transporter deficiency be treated?

Treatment with riboflavin therapy (high-dose supplementation of riboflavin) has been used since 2010 and appears to be effective and possibly life-saving. Therefore, treatment should begin as soon as a riboflavin transporter deficiency is suspected, and should continue unless the diagnosis is ruled out with genetic testing. Improvement of symptoms may occur within days to months after starting treatment, and starting treatment early appears to be associated with better and more rapid improvement.

More detailed information about this treatment and supportive care is available here on the GeneReviews website.

Last updated on 05-01-20

Name: RTD International United States Email: lballew@thisbeandnoah.org Url: https://www.rtdinternational.org/
Name: Thisbe and Noah Scott Foundation P.O. Box 50332
Nashville, TN, 37205-0332, United States
Phone: 615-521-6195 Email: http://www.thisbeandnoah.org/contact/ Url: http://www.thisbeandnoah.org/
Name: Cure RTD Foundation 6228 Northaven Rd.
Dallas, TX, 75230,
Phone: 403-244-4549 Email: info@cureRTD.org Url: http://curertd.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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