Riboflavin in Brown-Vialetto-Van Laere Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-28-3-8

Riboflavin in Brown-Vialetto-Van Laere Syndrome

Pediatric Neurology Briefs

Volume 28 (2014): Issue 3

By: J Gordon Millichap

Open Access

|Mar 2014

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.

References

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Bosch AM Stroek K Abeling NG Waterham HR Ijlst L Wanders RJ The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives Orphanet J Rare Dis 2012 Oct 29 7 83 10.1186/1750-1172-7-83 23107375
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McShane MA Boyd S Harding B Brett EM Wilson J Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease Brain 1992 Dec 115 (Pt 6) 1889 900 10.1093/brain/115.6.1889 1486466
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-28-3-8 | Journal eISSN: 2166-6482

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Language: English

Page range: 23 - 23

Published on: Mar 1, 2014

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Riboflavin Transporter,

Fazio-Londe Disease

© 2014 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 28 (2014): Issue 3