Article
Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.
Brain & development - 1 Apr 2022
Al-Anezi Ayed, Sotirova-Koulli Vania, Shalaby Osama, Ibrahim Ahmed, Abdulmotagalli Nehad, Youssef Ramy, Hossam El-Din Mohamed
Abstract excerpt
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine. BTRBGD is caused by mutations in the SLC19A3 gene on chromosome 2q36.6, encoding human thiamine transporter 2 (hTHTR2). Episodes of BTRBGD are...
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