Riboflavin transporter deficiency
Other Names for this Disease
- Pontobulbar palsy and neurosensory deafness
- Pontobulbar palsy with deafness
- Progressive bulbar palsy with sensorineural deafness
- Brown-Vialetto-van Laere syndrome
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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.Riboflavin transporter deficiency is a type of
Last updated: 8/10/2015
- Manole A and H Houlden. Riboflavin Transporter Deficiency Neuronopathy. GeneReviews. 06/11/2015; http://www.ncbi.nlm.nih.gov/books/NBK299312/. Accessed 6/17/2015.
- Genetics Home Reference (GHR) contains information on Riboflavin transporter deficiency. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Riboflavin transporter deficiency. Click on the link to view a sample search on this topic.