Thiamine deficiency syndromes
Evidence-based neurology checklist on thiamine deficiency syndromes: Genetic causes SLC19A2 SLC19A3 SLC25A19 TPK1 Clinical features of SLC19A2 syndrome Clinical features of other genetic syndromes Other features of thiamine deficiency Indications for thiamine replacement in chronic alcoholism…
Genetic causes
- SLC19A2
- SLC19A3
- SLC25A19
- TPK1
Clinical features of SLC19A2 syndrome
Clinical features of other genetic syndromes
Other features of thiamine deficiency
Indications for thiamine replacement in chronic alcoholism
Contraindications to thiamine replacement
References
- Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B. Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics, and functional studies. J Inherit Metab Dis 2019; 42:581-597.
- Galvin R, Brathen G, Ivashynka A, Hillbom M, Tanasescu R, Leone MA. EFNS guidelines for diagnosis, therapy and prevention of Wernicke encephalopathy. Eur J Neurol 2010; 17:1408-1418.
- Thomson AD, Cook CCH, Touquet R, Henry JA. The Royal College of Physicians Report on alcohol: guidelines for managing Wernicke's encephalopathy in the accident and emergency department. Alcohol Alcohol 2002; 37:513-621.
