Riboflavin transporter deficiency

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Synonyms: Brown-Vialetto-van Laere syndrome

A rare genetic motor neuron disease characterized by a peripheral and cranial neuropathy neuronal loss in anterior horns and atrophy of spinal sensory tracts causing muscle weakness sensory loss diaphragmatic paralysis and respiratory insufficiency and multiple cranial nerve deficits such as sensorineural hearing loss bulbar symptoms and loss of vision due to optic atrophy. Depending on the transporter affected Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Riboflavin transporter deficiency?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

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Clinical Trials

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