Basal Ganglia Disease, Biotin-responsive
Basal Ganglia Disease, Biotin-responsive
About the Disease
Biotin-Thiamine-Responsive Basal Ganglia Disease, also known as biotin-responsive basal ganglia disease, is related to basal ganglia disease and thiamine metabolism dysfunction syndrome 2, and has symptoms including muscle rigidity, seizures and paraparesis. An important gene associated with Biotin-Thiamine-Responsive Basal Ganglia Disease is SLC19A3 (Solute Carrier Family 19 Member 3). Affiliated tissues include brain, eye and caudate nucleus.
Common Targets
SLC19A3

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