Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve cells (neurons). Affected individuals typically have hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and signs of damage to other nerves.

Riboflavin transporter deficiency neuronopathy is caused by mutations in the SLC52A2 or SLC52A3 gene. These genes provide instructions for making related proteins called riboflavin transporters: RFVT2 is produced from the SLC52A2 gene, and RFVT3 is produced from the SLC52A3 gene. Both proteins move (transport) a vitamin called riboflavin (also called vitamin B2) across the cell membrane. Riboflavin cannot be made by the body, so it must be obtained from the food a person eats. The RFVT3 protein is found at especially high levels in cells of the small intestine and is important for absorbing riboflavin during digestion so that the vitamin can be used in the body. The RFVT2 protein is found in cells of the brain and spinal cord and is important for ensuring that these tissues have enough riboflavin for proper functioning.

Riboflavin transporter deficiency neuronopathy is a rare condition. Approximately 100 cases have been reported in the scientific literature.

Riboflavin transporter deficiency neuronopathy usually follows an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Published Date: January 01, 2016
Published By: National Institutes of Health