Results 11 to 20 of about 6,824 (185)

New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement [PDF]

Biomedicines, 2022
Riboflavin transporter deficiency (RTD) is a rare genetic disorder characterized by motor, sensory and cranial neuropathy. This childhood-onset neurodegenerative disease is caused by biallelic pathogenic variants in either SLC52A2 or SLC52A3 genes ...
Fiorella Colasuonno, Chiara Marioli, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno   +5 more
doaj   +4 more sources

Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene [PDF]

Metabolites
Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyneuropathy, and ...
Jean-Marc T. Jreissati, Leonard Lawandos, Julien T. Jreissati, Pascale E. Karam   +3 more
doaj   +2 more sources

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. [PDF]

Oxid Med Cell Longev, 2020
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy. As riboflavin (RF) is the precursor of FAD and FMN, we hypothesize that both mitochondrial and peroxisomal energy metabolism ...
Colasuonno F, Niceforo A, Marioli C, Fracassi A, Stregapede F, Massey K, Tartaglia M, Bertini E, Compagnucci C, Moreno S.   +9 more
europepmc   +4 more sources

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Journal of the Peripheral Nervous System, 2023
AbstractRiboflavin 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 supplementation is beneficial in short‐term reports, but the quantum of benefit in various clinical ...
Jack R. Fennessy, Kayla M. D. Cornett, Joshua Burns, Manoj P. Menezes   +3 more
openaire   +4 more sources

SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility

Cell Reports, 2021
Summary: Ablation of Slc22a14 causes male infertility in mice, but the underlying mechanisms remain unknown. Here, we show that SLC22A14 is a riboflavin transporter localized at the inner mitochondrial membrane of the spermatozoa mid-piece and show by ...
Wenhua Kuang, Jie Zhang, Zhou Lan, R.N.V. Krishna Deepak, Chao Liu, Zhilong Ma, Lili Cheng, Xinbin Zhao, Xianbin Meng, Weihua Wang, Xueying Wang, Lina Xu, Yupei Jiao, Qi Luo, Ziyi Meng, Kehkooi Kee, Xiaohui Liu, Haiteng Deng, Wei Li, Hao Fan, Ligong Chen   +20 more
doaj   +3 more sources

Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations. [PDF]

Dev Med Child Neurol
AbstractThe aim of this longitudinal case series was to describe long‐term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high‐dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12‐month intervals for monitoring of disease progression ...
Fennessy JR, Cornett KMD, Donlevy GA, Mckay MJ, Burns J, Menezes MP.   +5 more
europepmc   +4 more sources

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene [PDF]

Molecular Genetics and Metabolism Reports
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and ...
Elizabeth S. Tranel, Bridget McGowan, Andy Drackley, Leon G. Epstein, Vamshi K. Rao, Nancy L. Kuntz, Abigail N. Schwaede   +6 more
doaj   +2 more sources

Role of Otolaryngologists in the Treatment of Patients With Riboflavin Transporter Deficiency: A Case Report. [PDF]

Cureus, 2023
Riboflavin transporter deficiency (RTD) is a rare genetic disorder that can have detrimental effects on the nervous system, causing progressive neurodegeneration. Here, we report the second case of RTD in Saudi Arabia. An 18-month-old boy presented to the otolaryngology clinic with six weeks history of progressive noisy breathing associated with ...
Alasqah MI, Aldriweesh B, Alshareef WA, Alhashem MH, Alammar A.   +4 more
europepmc   +3 more sources

Riboflavin in neurological diseases: therapeutic advances, metabolic insights, and emerging genetic strategies [PDF]

Frontiers in Neurology
BackgroundRiboflavin (vitamin B2), a precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), is essential for mitochondrial function, redox balance, and neuronal viability.
Zhiming Tao, Zhiming Tao, Zhiming Tao, Jinglu Huo, Jinglu Huo, Jinglu Huo, Xiaosheng Hao, Xiaosheng Hao, Xiaosheng Hao, Jianmin Liang, Jianmin Liang, Jianmin Liang   +11 more
doaj   +2 more sources

Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. [PDF]

Cerebellum Ataxias, 2018
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar involvement. Although sensorineural hearing loss, bulbar palsy, and optic atrophy are typical, presentation may be variable and an atypical ...
Fan J, Fogel BL.
europepmc   +4 more sources