Results 11 to 20 of about 2,738 (140)

A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report [PDF]

Frontiers in Pediatrics
IntroductionRiboflavin transporter deficiency (RTD) is a rare genetic disorder that affects riboflavin transport, leading to impaired red blood cell production and resulting in pure red cell aplasia.
Jingying Cheng, Jiafeng Yao, Shasha Zhao, Lingling Fu, Liqiang Zhang, Jin Jiang   +5 more
doaj   +4 more sources

Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency [PDF]

Disease Models & Mechanisms, 2021
The cytoskeletal network plays a crucial role in the differentiation, morphogenesis, function and homeostasis of the nervous tissue, so that alterations in any of its components may lead to neurodegenerative diseases.
Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci   +8 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 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 ...
Kayla Cornett, Manoj Menezes, Jack Fennessy   +2 more
exaly   +3 more sources

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

Dev Med Child Neurol
https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16083
Fennessy JR, Cornett KMD, Donlevy GA, Mckay MJ, Burns J, Menezes MP.   +5 more
europepmc   +5 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

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

Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum

Genes, 2023
Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in SLC52A1. The RFVT1 protein is mainly expressed in the placenta and intestine. To our knowledge, only five cases of RFVT1 deficiency from three families have been reported so far.
Sarah C Grunert, Miriam Schmidts, Sara Tucci   +2 more
exaly   +4 more sources