Health Conditions Related to Genetic Changes
Riboflavin transporter deficiency neuronopathy
More than two dozen mutations in the SLC52A3 gene have been found to cause riboflavin transporter deficiency neuronopathy. This neurological condition encompasses two disorders that were previously considered to be separate: Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. The gene mutations involved in this condition lead to production of abnormal RFVT3 proteins. Some mutations lead to the production of an altered protein that cannot get to the cell membrane, so it is unable to transport riboflavin into the cell. Other mutations lead to a version of the protein that can get to the cell membrane, but its function as a transporter is impaired. These changes impair the absorption of riboflavin in the small intestine. The resulting shortage of riboflavin leads to a reduction of FAD and FMN. However, it is unclear how these changes lead to the nerve problems that cause hearing loss, muscle weakness in the face and limbs, and breathing problems in people with the disorder.
More About This Health ConditionOther Names for This Gene
- bA371L19.1
- BVVLS
- C20orf54
- hRFT2
- MGC10698
- RFT2
- RFT2_HUMAN
- RFVT3
- riboflavin transporter 2
- solute carrier family 52 (riboflavin transporter), member 3
- solute carrier family 52, riboflavin transporter, member 3
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26. Citation on PubMed or Free article on PubMed Central
- Cali E, Dominik N, Manole A, Houlden H. Riboflavin Transporter Deficiency. 2015 Jun 11 [updated 2021 Apr 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK299312/ Citation on PubMed
- Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev. 2005 Sep;27(6):443-6. doi: 10.1016/j.braindev.2004.10.003. Epub 2004 Dec 15. Citation on PubMed
- Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet. 2010 Mar 12;86(3):485-9. doi: 10.1016/j.ajhg.2010.02.006. Epub 2010 Mar 4. Citation on PubMed or Free article on PubMed Central
- McShane MA, Boyd S, Harding B, Brett EM, Wilson J. Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Brain. 1992 Dec;115 ( Pt 6):1889-900. doi: 10.1093/brain/115.6.1889. Citation on PubMed
- Nabokina SM, Subramanian VS, Said HM. Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2). Mol Genet Metab. 2012 Apr;105(4):652-7. doi: 10.1016/j.ymgme.2011.12.021. Epub 2012 Jan 5. Citation on PubMed or Free article on PubMed Central
- Subramanian VS, Subramanya SB, Rapp L, Marchant JS, Ma TY, Said HM. Differential expression of human riboflavin transporters -1, -2, and -3 in polarized epithelia: a key role for hRFT-2 in intestinal riboflavin uptake. Biochim Biophys Acta. 2011 Dec;1808(12):3016-21. doi: 10.1016/j.bbamem.2011.08.004. Epub 2011 Aug 11. Citation on PubMed or Free article on PubMed Central
- Yonezawa A, Inui K. Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr-Jun;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014. Citation on PubMed
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