Riboflavin Transporter Deficiency

Riboflavin Transporter Deficiency, also known as brown-vialetto-van laere syndrome, is related to fazio-londe disease and brown-vialetto-van laere syndrome 2, and has symptoms including dyspnea, muscular fasciculation and stridor. An important gene associated with Riboflavin Transporter Deficiency is SLC52A3 (Solute Carrier Family 52 Member 3), and among its related pathways/superpathways is Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye and skeletal muscle, and related phenotypes are cranial nerve paralysis and abnormal cranial nerve morphology