Article Text

Download PDFPDF
Late-onset presentation of neurometabolic diseases: diagnostic flowchart revisited
  1. Cyril Goizet1,2
  1. 1Reference Center for Rare Neurogenetic Diseases, Department of Medical Genetics, University Hospital Centre Bordeaux Pellegrin Hospital Group, Bordeaux, Aquitaine, France
  2. 2INSERM U1211, Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Talence, Aquitaine, France
  1. Correspondence to Professor Cyril Goizet, Reference Center for Rare Neurogenetic Diseases, Department of Medical Genetics, University Hospital Centre Bordeaux Pellegrin Hospital Group, 33000 Bordeaux, Aquitaine, France; cyril.goizet{at}chu-bordeaux.fr

Statistics from Altmetric.com

Riboflavin transporter deficiency recapitulates all the difficulties and pitfalls currently encountered in the diagnostic procedures of many rare genetic diseases, including treatable conditions which are important to diagnose early

In the paper by Carreau et al, a large series of 25 patients suffering of late-onset riboflavin transporter deficiency (RTD) were described including 6 novel patients and 19 previously reported.1 Even with an extremely rare prevalence, this disorder needs to be better known since a specific efficient therapy does exist which may dramatically change its course and improve patients, probably with better efficiency when initiated early after the onset of first features.2

Remarkably, late-onset RTD may be associated with atypical clinical presentation consisting of isolated motor neuropathy as the first symptom. …

View Full Text

Footnotes

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; internally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Linked Articles