Brown-Vialetto-Van Laere syndrome

Definition:

Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. It has been suggested that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition.

References:

[1]. A Reghan Foley, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan;137(Pt 1):44-56. [Content Brief]

[2]. Tamilarasan Udhayabanu, et al. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. Clin Chim Acta. 2016 Nov 1;462:210-214. [Content Brief]

[3]. Tobias B Haack, et al. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 2012 Nov;35(6):943-8. [Content Brief]

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