A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report [PDF]
Frontiers in PediatricsIntroductionRiboflavin 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 +5 more
doaj +6 more sources
Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene [PDF]
MetabolitesBackground: 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 +3 more
doaj +3 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 +2 more
exaly +5 more sources
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency [PDF]
Journal of Inherited Metabolic Disease, 2019 Abstract Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that
Annet Bosch +2 more
exaly +7 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 +9 more
europepmc +5 more sources
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience [PDF]
Journal of Inherited Metabolic Disease, 2016 Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain.
Annet Bosch
exaly +3 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 +8 more
doaj +2 more sources
Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2 [PDF]
IUBMB Life, 2021 AbstractRiboflavin transporter deficiency 2 (RTD2) is a rare neurological disorder caused by mutations in the Solute carrier family 52 member 2 (Slc52a2) gene encoding human riboflavin transporter 2 (RFVT2). This transporter is ubiquitously expressed and mediates tissue distribution of riboflavin, a water‐soluble vitamin that, after conversion into FMN
Console L. +5 more
openaire +4 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 +4 more
europepmc +3 more sources
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells [PDF]
International Journal of Molecular Sciences, 2020 Mitochondrial dysfunction is a key element in the pathogenesis of neurodegenerative disorders, such as riboflavin transporter deficiency (RTD). This is a rare, childhood-onset disease characterized by motoneuron degeneration and caused by mutations in ...
Marco Tartaglia +2 more
exaly +5 more sources