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Diseases

Genetic and Rare Diseases Information Center (GARD)

Riboflavin transporter deficiency


Other Names for this Disease
  • Brown-Vialetto-van Laere syndrome
  • BVVLS
  • Pontobulbar palsy and neurosensory deafness
  • Pontobulbar palsy with deafness
  • Progressive bulbar palsy with sensorineural deafness
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 Brown-Vialetto-Van Laere syndrome? Is genetic testing for this syndrome available? 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 (Riboflavin transporter deficiency neuronopathy, type 2) or mutations in the SLC52A3 gene (Riboflavin transporter deficiency neuronopathy, type 3).
Last updated: 8/10/2015

Is Brown-Vialetto-Van Laere syndrome genetic?

Brown-Vialetto-Van Laere syndrome is caused by mutations in the SLC52A3 gene or the SLC52A2 gene.  It is inherited in an autosomal recessive fashion. Brown-Vialetto-Van Laere syndrome is a subtype of riboflavin trsnsporter deficiency.[1]
Last updated: 8/10/2015

Is genetic testing available for Brown-Vialetto-Van Laere syndrome?

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 health care provider or a genetics professional. Please see a list of laboratories offering the genetic test for Brown-Vialetto-Van Laere syndrome.
Last updated: 8/10/2015

Who can I talk to if I feel I or a loved one may have Brown-Vialetto-Van Laere syndrome?

If you feel that you or someone you know may have Brown-Vialetto-Van Laere syndrome 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.

The following online resources can also help you find healthcare professionals in your area.

The American Academy of Neurologist has a tool for finding local neurologists. You can find this tool by visiting the following link:
http://www.thebrainmatters.org/index.cfm?key=1.2.2

The American Academy of Pediatrics has a tool for locating pediatricians in a variety of sub-specialities including neurology. You can find the tool by visiting the following link:
http://www.aap.org/referral/

Geneclinics.org  has a searchable directory of US and international genetics clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you. Click here to learn more about genetic consultations.
http://www.geneclinics.org/
Last updated: 12/3/2008

How can I learn more about research studies enrolling people with Brown-Vialetto-Van Laere syndrome and their families?

The BVVL International has a Brown-Vialetto-Van Laere disease registry that is collecting information from patients and their families. The registry was developed to hasten research on this rare syndrome. To learn more about the disease registry click here. To learn more about research progress or to participate in ongoing research contact info@bvvlinternational.org 
Last updated: 12/3/2008

References
Other Names for this Disease
  • Brown-Vialetto-van Laere syndrome
  • BVVLS
  • Pontobulbar palsy and neurosensory deafness
  • Pontobulbar palsy with deafness
  • Progressive bulbar palsy with sensorineural deafness
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.