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Ocular Biomarkers of Riboflavin Transporter Deficiency.
Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS. Bulas S, et al. J Neuroophthalmol. 2023 Mar 1;43(1):110-115. doi: 10.1097/WNO.0000000000001678. Epub 2022 Aug 2. J Neuroophthalmol. 2023. PMID: 35921603
BACKGROUND: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 ( SLC52A2- RTD). ...
BACKGROUND: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 pati …
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
Brown-Vialetto-Van Laere syndrome and Fazio-Londe diseases are now renamed as "riboflavin transporter deficiency" because these are autosomal recessive diseases caused by mutations of SLC52A2 and SLC52A3 genes that encode riboflavin transporters. ...
Brown-Vialetto-Van Laere syndrome and Fazio-Londe diseases are now renamed as "riboflavin transporter deficiency" becau …
Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.
Fennessy JR, Cornett KMD, Burns J, Menezes MP. Fennessy JR, et al. J Peripher Nerv Syst. 2023 Sep;28(3):308-316. doi: 10.1111/jns.12587. Epub 2023 Aug 24. J Peripher Nerv Syst. 2023. PMID: 37537696 Review.
Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. ...
Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pont …
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.
Jaeger B, Bosch AM. Jaeger B, et al. J Inherit Metab Dis. 2016 Jul;39(4):559-64. doi: 10.1007/s10545-016-9924-2. Epub 2016 Mar 14. J Inherit Metab Dis. 2016. PMID: 26973221 Free PMC article. Review.
In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) and SLC52A3 (coding for RFVT3) cause a neurodegenerative disorder formerly known as Brown-Vialetto-Van Laere (BVVL) syndrome, now renamed to riboflavin transporter …
In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) and SLC52A3 (coding for RFVT3) cau …
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
O'Callaghan B, Bosch AM, Houlden H. O'Callaghan B, et al. J Inherit Metab Dis. 2019 Jul;42(4):598-607. doi: 10.1002/jimd.12053. Epub 2019 Feb 21. J Inherit Metab Dis. 2019. PMID: 30793323 Review.
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transpor …
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere …
Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect.
Elks N, Wilmshurst JM, Raga SV. Elks N, et al. Pediatr Neurol. 2023 Jul;144:16-18. doi: 10.1016/j.pediatrneurol.2023.04.004. Epub 2023 Apr 7. Pediatr Neurol. 2023. PMID: 37116404
BACKGROUND: Riboflavin transporter deficiency is a rare but severe neurometabolic disorder. ...Now at age two years, he remains clinically asymptomatic despite genetic confirmation of riboflavin transporter deficiency. CONCLUSIONS: Antena …
BACKGROUND: Riboflavin transporter deficiency is a rare but severe neurometabolic disorder. ...Now at age two years, he …
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2.
Amir F, Atzinger C, Massey K, Greinwald J, Hunter LL, Ulm E, Kettler M. Amir F, et al. J Child Neurol. 2020 Mar;35(4):283-290. doi: 10.1177/0883073819893159. Epub 2019 Dec 23. J Child Neurol. 2020. PMID: 31868069
PURPOSE: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. METHODS: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were inte …
PURPOSE: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) t …
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S. Nimmo GAM, et al. Am J Med Genet A. 2018 Feb;176(2):399-403. doi: 10.1002/ajmg.a.38530. Epub 2017 Nov 30. Am J Med Genet A. 2018. PMID: 29193829
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. ...Whole exome sequencing identifi …
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterize …
Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.
Sanchez JA, Traub R, Trau SP, Howard JF Jr. Sanchez JA, et al. J Clin Neuromuscul Dis. 2022 Jun 1;23(4):205-209. doi: 10.1097/CND.0000000000000390. J Clin Neuromuscul Dis. 2022. PMID: 35608644
We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a …
We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-audito …
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C, Gardner-Berry K. Menezes MP, et al. Dev Med Child Neurol. 2016 Aug;58(8):848-54. doi: 10.1111/dmcn.13084. Epub 2016 Feb 25. Dev Med Child Neurol. 2016. PMID: 26918385 Free article.
Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy. ...Cochlear implantation r …
Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of …
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