Riboflavin Transporter Deficiency Neuronopathy

About the Disease
Fazio-Londe Disease, also known as fazio-londe syndrome, is related to brown-vialetto-van laere syndrome 2 and riboflavin transporter deficiency, and has symptoms including dyspnea, muscular fasciculation and stridor. An important gene associated with Fazio-Londe Disease is SLC52A3 (Solute Carrier Family 52 Member 3), and among its related pathways/superpathways are Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". Affiliated tissues include spinal cord, tongue and brain, and related phenotypes are ptosis and dysphagia

Common Targets
ATP6V0A4 | SLC52A2 | HEXB | SLC52A3

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