{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7"],"submitter":["Bosch AM"],"pubmed_abstract":["The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease is caused by mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter. In these patients riboflavin deficiency is the cause of the BVVL/FL syndrome and supplementation of riboflavin proved a life saving treatment. Mutations in the SLC52A2 gene and the SLC52A1 (GPR172B) gene, coding for human riboflavin transporters hRFT3 and hRFT1 have been associated with the BVVL syndrome as well. We performed a review of the literature, with emphasis on the natural history and "],"journal":["Orphanet journal of rare diseases"],"pagination":["83"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3517535"],"repository":["biostudies-literature"],"pubmed_title":["The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives."],"pmcid":["PMC3517535"],"pubmed_authors":["Bosch AM","Waterham HR","Abeling NG","Stroek K","Ijlst L","Wanders RJ"],"additional_accession":[]},"is_claimable":false,"name":"The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.","description":"The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease is caused by mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter. In these patients riboflavin deficiency is the cause of the BVVL/FL syndrome and supplementation of riboflavin proved a life saving treatment. Mutations in the SLC52A2 gene and the SLC52A1 (GPR172B) gene, coding for human riboflavin transporters hRFT3 and hRFT1 have been associated with the BVVL syndrome as well. We performed a review of the literature, with emphasis on the natural history and ","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Oct","modification":"2025-04-22T14:29:49.604Z","creation":"2019-03-27T01:01:36Z"},"accession":"S-EPMC3517535","cross_references":{"pubmed":["23107375"],"doi":["10.1186/1750-1172-7-83"]}}