{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:46:10Z","timestamp":1791978370337,"version":"4.4.0"},"reference-count":62,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T00:00:00Z","timestamp":1550707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007155","name":"Medical Research Council Canada","doi-asserted-by":"publisher","award":["G0601943"],"award-info":[{"award-number":["G0601943"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown\u2010Vialetto\u2010Van Laere and Fazio\u2010Londe syndromes since the discovery of pathogenic mutations in the\n                    <jats:italic>SLC52A2<\/jats:italic>\n                    and\n                    <jats:italic>SLC52A3<\/jats:italic>\n                    genes that encode human riboflavin transporters RFVT2 and RFVT3. Patients present with a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal. Considerable progress in the clinical and genetic diagnosis of RTDs has been made in recent years and has permitted the successful lifesaving treatment of many patients with high dose riboflavin supplementation. In this review, we first outline the importance of riboflavin and its efficient transmembrane transport in human physiology. Reports on 109 patients with a genetically confirmed diagnosis of RTD are then summarized in order to highlight commonly presenting clinical features and possible differences between patients with pathogenic\n                    <jats:italic>SLC52A2<\/jats:italic>\n                    (RTD2) or\n                    <jats:italic>SLC52A3<\/jats:italic>\n                    (RTD3) mutations. Finally, we focus attention on recent work with different models of RTD that have revealed possible pathomechanisms contributing to neurodegeneration in patients.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12053","type":"journal-article","created":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T23:18:02Z","timestamp":1550791082000},"page":"598-607","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":108,"title":["An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1323-6843","authenticated-orcid":false,"given":"Benjamin","family":"O'Callaghan","sequence":"first","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery  London 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