Riboflavin transporter deficiency


Riboflavin is the precursor for coenzymes in carbohydrate, lipid and aminoacid metabolism. Riboflavin transporter deficiency syndrome (Brown-Vialetto-Van Laere syndrome) is caused by mutations in riboflavin transporter genes SLC52A2, SLC52A3, and rarely by SLC52A1. Inheritance is autosomal recessive. Riboflavin transporter deficiencies result in muscle weakness, feeding and respiratory difficulties, and hearing loss. High dose riboflavin therapy may be beneficial. Here we present 4 new patients with variable presentations.


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