Riboflavin transporter deficiency

Engelsk navn: Riboflavin transporter deficiency
Engelske synonym: 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.

Fra Orphanet

ORPHA: 97229
Klassifiseringsnivå: Disorder
ICD-10: G12.2

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