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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. …
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.