, 2023 Riboflavin transport is mediated, in part, by riboflavin transporter proteins 2 and 3, encoded by SLC52A2 and SLC52A3, respectively. Biallelic mutations in SLC52A2 and SLC52A3 impair riboflavin transporter protein function and riboflavin transport, causing disruptions to mitochondrial metabolism which result in sensory and motor neurodegeneration and ...
Choueiri, Catherine
openaire +3 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
Riboflavin Transporter 1 Deficiency Caused by a Homozygous Single Exonal Deletion of [PDF]
Annals of Child Neurology, 2020 Urim Kang +4 more
doaj +4 more sources
C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement [PDF]
Genes and DiseasesRamesh K. Narayanan +6 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 +9 more
europepmc +4 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 Marco Tartaglia +2 more
exaly +2 more sources
Riboflavin Transporter Deficiency (RTD) is a progressive inherited neuropathy of childhood onset characterised clinically by bulbar palsy, limb muscle weakness, sensorineural hearing loss, visual impairment, sensory ataxia and respiratory compromise. Without treatment, the condition progresses relentlessly resulting in early death due to respiratory ...
Fennessy, Jack Richard
openaire +2 more sources
Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations. [PDF]
Dev Med Child Neurolhttps://onlinelibrary.wiley.com/doi/10.1111/dmcn.16083
Fennessy JR +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
The Turkish Journal of Pediatrics, 2021 Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes. Case.
Berna Şeker Yılmaz +2 more
doaj +1 more source