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Diseases

Genetic and Rare Diseases Information Center (GARD)

Riboflavin transporter deficiency


Other Names for this Disease
  • Pontobulbar palsy and neurosensory deafness
  • BVVLS
  • Pontobulbar palsy with deafness
  • Progressive bulbar palsy with sensorineural deafness
  • Brown-Vialetto-van Laere syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is riboflavin transporter deficiency?

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 the SLC52A2 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.[1]
Last updated: 8/10/2015

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.[1]
Last updated: 6/9/2016

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: 6/9/2016

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?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. 

The following online resources can help you find a genetics professional in your community:
  • GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
  • The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
  • The American College of Medical Genetics has a searchable database of US genetics clinics.
  • The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Last updated: 3/18/2016

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: 6/9/2016

References
Other Names for this Disease
  • Pontobulbar palsy and neurosensory deafness
  • BVVLS
  • Pontobulbar palsy with deafness
  • Progressive bulbar palsy with sensorineural deafness
  • Brown-Vialetto-van Laere syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.