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Entry Name Description Category Pathway Gene
H01231 Biotin-thiamine-responsive basal ganglia disease ... Symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d) and sometimes thiamine. It has been reported that BTBGD is due to mutations in the transporter gene SLC19A3. Inherited metabolic disorder SLC19A3 [HSA:80704] [KO:K14610]
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