One of several progressive neurologic disorder in which a riboflavin transporter gene is implicated. See the human disease model report 'riboflavin transporter deficiency neuronopathy' (FBhh0000799) for information about fly models of this and related diseases.
[updated May 2018 by FlyBase; FBrf0222196]
[BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2](https://omim.org/entry/614707)
[SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2](https://omim.org/entry/607882)
Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. [from MIM:614707; 2018.05.02]
Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is caused by homozygous or compound heterozygous mutation in the SLC52A2 gene. [from MIM:614707; 2018.05.02]
SLC52A2 is a transmembrane protein that mediates cellular uptake of riboflavin. [from MIM:607882; 2018.05.02]