23 June 2022
Riboflavin treats progressive childhood neurodegeneration
Published online 30 December 2013
Brown-Vialetto-Van Laere syndrome (BVVL), a group of rare childhood neurodegenerative disorders first described in 1894, can lead to hearing loss, paralysis, respiratory failure and death.
A team of researchers, led by Henry Houlden from the Institute of Neurology at University College London, including Ahmad Al-Odaib from King Faisal Specialist Hospital and Research Centre in Riyadh and Andre Megarbane from the Université Saint Joseph in Beirut, gave high doses of the vitamin riboflavin to BVVL patients to see if it could help halt the progression of disease, publishing their findings in the journal Brain.
The researchers had previously reported that mutations to the gene SLC52A2, which encodes the riboflavin transporter protein RFVT2, causes BVVL. In this study, the team focused on 18 patients with cranial nerves neuropathies or impaired movement or sensation owing to nerve damage. They found that these patients with had reduced riboflavin uptake and reduced expression of RFVT2.
The patients were then given a high dose of riboflavin orally. Two patients experienced significant and sustained clinical and biochemical improvements while preclinical data revealed thirteen patients benefited with ten showing improvements in their biochemistry. This suggests that high-dose riboflavin therapy can help treat this neurodegenerative condition, especially if initiated soon after symptoms appear.
"For many children, riboflavin has transformed their lives, allowing them to come off their ventilators, be discharged from hospital and start to lead a relatively normal childhood," says Houlden. "Obtaining a genetic diagnosis is essential, we are still very keen to diagnose further families with genetic testing."
- Foley, A.R. et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) doi:10.1093/brain/awt315