Riboflavin in Brown-Vialetto-Van Laere Syndrome

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-28-3-8

Keywords:

Riboflavin Transporter, Fazio-Londe Disease

Abstract

Investigators at Great Ormond Street Hospital, London, UK, and multiple centers internationally report the response to high-dose oral riboflavin therapy in 18 patients from 13 families with mutations in SLC5ZA2, encoding riboflavin transporter RTVT2, a new causative gene for Brown-Vialetto-Van Laere syndrome (BVVLS), a progressive neurodegenerative disorder leading to death in childhood.

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Published

2014-03-01

Issue

Vol 28, No 03 | Mar 2014

Section

Degenerative Diseases

License

Copyright (c) 2014 The Author(s)

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