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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
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Treatment

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How might riboflavin transporter deficiency be treated?

Because oral riboflavin treatment is effective (and possibly lifesaving), it should begin as soon as a riboflavin transporter deficiency neuronopathy is suspected and continued lifelong unless the diagnosis is ruled out by genetic testing. It is recommended to start with 10 mg/Kg per day and then gradually increase doses in order to reach the right dose:[1][2]

• Riboflavin 10 mg/kg per day in 3 doses for 1 month
• Riboflavin 20 mg/kg per day in 3 doses for 1 month
• Riboflavin 30 mg/kg per day in 3 doses for 1 month
• Riboflavin 40 mg/kg per day in 3 doses for 1 month
• Riboflavin 50 mg/kg per day in 3 doses for 1 month

Before the treatment and then, at three months and six months after giving riboflavin it is recommended to have   follow-up physical and neurologic examinations, and measurement of blood riboflavin and acylcarnitine. Thereafter, follow up should be biannual in older individuals and more frequent in younger children.[2]
Last updated: 8/12/2015

References
  1. Deficiencia del transportador de riboflavina. Orphanet. May 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=97229. Accessed 8/12/2015.
  2. 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.


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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.