Riboflavin transporter deficiency

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Riboflavin transporter deficiency

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 October 2023.

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Riboflavin transporter deficiency?

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning 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 so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

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