Biotin-responsive basal ganglia disease
Evidence-based neurology checklist on biotin-responsive basal ganglia disease: Genetics and pathology This is caused by mutations in the SLC19A3 gene The gene encodes the human thiamine transporter 2 (hTHTR2) The transmission is autosomal recessive It is especially in Saudi Arabia Onset features…
Genetics and pathology
- This is caused by mutations in the SLC19A3 gene
- The gene encodes the human thiamine transporter 2 (hTHTR2)
- The transmission is autosomal recessive
- It is especially in Saudi Arabia
Onset features
Neurological features
Magnetic resonance imaging (MRI)
Treatment
References
- Tabarki B, Al-Shafi S, Al-Shahwan S, et al. Biotin responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology 2013; 80:261-267.
- Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998; 121:1267-1279.
- Zeng WQ, Al-Yamani E, Acierno JS, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005; 77:16-26.
- Oommen AT, Polavarapu K, Christopher R, Netravathi M. Biotin-responsive basal ganglia disease: treatable metabolic disorder with SLC19A3 mutation presenting as rapidly progressive dementia. Neurol India 2022; 70:733-736.
- Alfadhel M, Almuntashri M, Jadah RH, et al. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis 2013; 8:83.
