Article
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Cold Spring Harbor molecular case studies - 1 Nov 2017
Whitford Whitney, Hawkins Isobel, Glamuzina Emma, Wilson Francessa, Marshall Andrew, Ashton Fern, Love Donald R, Taylor Juliet, Hill Rosamund, Lehnert Klaus, Snell Russell G, Jacobsen Jessie C
Abstract excerpt
Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early childhood with progressive neurodegeneration, including confusion, seizures, and dysphagia, advancing to coma and death. Treatment is possible via supplement of biotin and/or thiamine, with early...
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