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Structure and transport mechanism of human riboflavin transporters. [PDF]

Nat Commun
Wang K, Chen H, Cheng L, Zhao J, Huang B, Wu D, He X, Zhou Y, Yuan Y, Zhou F, Jiang J, Chen L, Jiang D.   +12 more
europepmc   +1 more source

Micronutrient bioavailability: concepts, influencing factors, and strategies for improvement. [PDF]

Front Nutr
Richards JD, Cori H, Rahn M, Finn K, Bárcena J, Kanellopoulos AK, Péter S, Spooren A.   +7 more
europepmc   +1 more source

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Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish

Human Molecular Genetics
Abstract Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively.
Pena Ia, Sally Spendiff, Alicia Dibattista   +2 more
exaly   +3 more sources

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

American Journal of Medical Genetics, Part A, 2020
AbstractRiboflavin transporter deficiency (RTD) (MIM #614707) is a neurogenetic disorder with its most common manifestations including sensorineural hearing loss, peripheral neuropathy, respiratory insufficiency, and bulbar palsy. Here, we present a 2‐year‐old boy whose initial presentation was severe macrocytic anemia necessitating multiple blood ...
Sarah H Elsea, Nishitha Pillai, Alison Bertuch   +2 more
exaly   +3 more sources

Ocular Biomarkers of Riboflavin Transporter Deficiency

Journal of Neuro-Ophthalmology, 2022
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 ...
Sabrina, Bulas, Emma C, Bedoukian, Erin C, O'Neil, Ian D, Krantz, Sabrina W, Yum, Grant T, Liu, Tomas S, Aleman   +6 more
openaire   +2 more sources

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2

Journal of Clinical Neuromuscular Disease, 2022
Abstract 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 homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro).
Jose A, Sanchez, Rebecca, Traub, Steven P, Trau, James F, Howard   +3 more
openaire   +2 more sources

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

Seminars in Pediatric Neurology, 2018
This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis.
Shaakira, Chaya, Marco, Zampoli, Diane, Gray, Jane, Booth, Gillian, Riordan, Alvin, Ndondo, Karen, Fieggen, Jody, Rusch, George, van der Watt, Komala, Pillay, Francois, van der Westhuizen, Manoj, Menezes, Jo, Wilmshurst   +12 more
openaire   +3 more sources

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

American Journal of Medical Genetics Part A, 2017
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. Oral riboflavin halts disease progression and may reverse symptoms.
Graeme A. M. Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek‐Andrews   +4 more
openaire   +2 more sources