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Development of a Functional Outcome Measure for Riboflavin Transporter Deficiency

Journal of the Peripheral Nervous System
AbstractBackground and AimsRiboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure.
Joshua Burns, Marnee Mckay, Kayla Cornett   +2 more
exaly   +3 more sources

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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 R Pillai, Alison A Bertuch   +2 more
exaly   +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

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

Journal of Neurology, Neurosurgery & Psychiatry, 2020
ObjectiveRiboflavin transporter deficiencies (RTDs), involving SLC52A3 and SLC52A2 genes, have recently been related to Brown-Vialetto-Van Laere (BVVL) syndrome, a hereditary paediatric condition associating motor neuropathy (MN) and deafness. BVVL/RTD has rarely been reported in adult patients, but is probably underdiagnosed due to poor knowledge and ...
Carreau, Christophe, Benoit, Charline, Ahle, Guido, Cauquil, Cécile, Roubertie, Agathe, Lenglet, Timothée, Cosgrove, Jeremy, Meunier, Isabelle, Veauville-Merllié, Alice, Acquaviva-Bourdain, Cécile, Nadjar, Yann   +10 more
openaire   +2 more sources

P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations

Posters, 2017
Introduction Biologically active forms of riboflavin, which is an important factor in myelin synthesis, are important cofactors of carbohydrate, amino acid, and lipid metabolism. The mutations in the riboflavin transporter genes (SLC52A2, SLC52A3) cause riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome, BVVLS).
Ceren Çıralı, Hacer Ergin, Özmert MA Özdemir, Uluç Yis, Mert Karakaya, Janine Altmüller, Peter Nürnberg, Brunhilde Wirth, Selcan Zeynep   +8 more
openaire   +1 more source

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Human Mutation, 2010
Riboflavin, or vitamin B2, is a precursor to flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) molecules, required in biological oxidation-reduction reactions. We previously reported a case of a newborn female who had clinical and biochemical features of multiple acyl-CoA dehydrogenation deficiency (MADD), which was corrected by ...
Ho, Gladys, Yonezawa, Atsushi, Masuda, Satohiro, Inui, Ken-ichi, Sim, Keow G, Carpenter, Kevin, Olsen, Rikke Katrine, Mitchell, John J, Rhead, William J, Peters, Gregory, Christodoulou, John   +10 more
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Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency

Neurology
Riboflavin transporter deficiency (RTD), previously referred to as Brown-Vialetto-Van Laere syndrome, is caused by pathogenic variants in the SLC52A1, SLC52A2, or SLC52A3 genes, resulting in RTD types 1, 2, and 3, respectively. Researchers estimate an occurrence of approximately 1 in 1,000,000.
Marisa A. O'Brien, Susan M. Culican, Marwan S. Shinawi, Craig M. Zaidman   +3 more
openaire   +2 more sources

Riboflavin transporter deficiency

Neuromuscular Disorders, 2017
Topaloglu, H., Alikasifoglu, M., Haliloglu, G., Konuskan, B., Serdaroglu, E.   +4 more
openaire   +3 more sources

Riboflavin supplementation in children with riboflavin transporter deficiency type 2 does not stop disease progression based on long‐term follow‐up

Developmental Medicine & Child Neurology
This commentary is on the original article by Fennessy et al. on pages 405–415 of this issue.
Enrico Bertini, Keith Massey
openaire   +2 more sources

A Case Report of Sudden-Onset Auditory Neuropathy Spectrum Disorder Associated With Brown-Vialetto-Van Laere Syndrome (Riboflavin Transporter Deficiency)

International Journal of Audiology, 2022
Elif Ayanoglu Aksoy
exaly