Biotin-Thiamine-Responsive Basal Ganglia Disease.
Tabarki B, Al-Hashem A, Ortigoza-Escobar JD, Alsharhan H, Alfadhel M.
Tabarki B, et al.
2013 Nov 21 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
2013 Nov 21 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID: 24260777
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DIAGNOSIS/TESTING: The diagnosis of BTBGD is established in a proband with biallelic pathogenic variants in SLC19A3 identified by molecular genetic testing. MANAGEMENT: Targeted therapies: Biotin (5-10 mg/kg/day) and thiamine (up to 40 mg/kg/day with a maximum of 1, …
DIAGNOSIS/TESTING: The diagnosis of BTBGD is established in a proband with biallelic pathogenic variants in SLC19A3 identified by molecular …