Brown Vialetto van Laere (BVVL) syndrome: pathology

Genetics

• This is a riboflavin transporter deficiency (RTD) disorder
• It is caused by mutations in the riboflavin transporter (RFVT) gene
• SLC52A2 and SLC52A3 genes encodes RFVT2 and RFVT3 respectively
• The onset is usually in infancy
• Late onset families are recognised

References

1. Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis 2008; 3:9.
2. Foley AR, Menezes MP, Pandraud A, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2014; 137:44-56. 
3. O'Callaghan B, Bosch AM, Houlden H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis 2019; doi: 10.1002/jimd.12053 (Epub ahead of print). 
4. Bosch AM, Stroek K, Abeling NG, Waterham HS, Ijlst L, Wanders RJ. The Brown-Vialetto-Van Laere andFazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012; 7:83.
5. Johnson JO, Gibbs JR, Megarbane A, et al. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012; 135:2875-2882.
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Related checklists

• Brown Vialetto van Laere (BVVL) syndrome: clinical features
• Brown Vialetto van Laere (BVVL) syndrome: management