Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.

Christophe CarreauCharline BenoitGuido AhleCécile CauquilAgathe RoubertieTimothée LengletJeremy CosgroveIsabelle MeunierAlice Veauville-MerlliéCécile Acquaviva-BourdainYann Nadjar

Published in: Journal of neurology, neurosurgery, and psychiatry (2020)

Whereas late-onset RTD may mimic different acquired or genetic causes of motor neuropathies, it is a diagnosis not to be missed since high-dose riboflavin per oral supplementation is often highly efficient.

Keyphrases

late onset
highly efficient
high dose
early onset
low dose
genome wide
stem cell transplantation
copy number
replacement therapy