Results 161 to 170 of about 6,824 (185)

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
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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

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   +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
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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

Supplemental Material, Amir_Supplementary_AppendixB - The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

2020
Supplemental Material, Amir_Supplementary_AppendixB for The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2 by Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L.
Amir, Fatima, Atzinger, Carrie, Massey, Keith, Greinwald, John, Hunter, Lisa L., Ulm, Elizabeth, Kettler, Margaret   +6 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
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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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Riboflavin transporter deficiency

Neuromuscular Disorders, 2017
Haliloglu, G., Topaloglu, H., Serdaroglu, ESRA, Konuskan, B., ALİKAŞİFOĞLU, MEHMET   +4 more
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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