Thiamine deficiency syndromes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Thiamine deficiency syndromes. SLC19A2, SLC19A3, SLC25A19, TPK1. Fully referenced neurology checklist.
Genetic causes
- SLC19A2
- SLC19A3
- SLC25A19
- TPK1
Clinical features of SLC19A2 syndrome
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Clinical features of other genetic syndromes
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Other features of thiamine deficiency
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Indications for thiamine replacement in chronic alcoholism
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Contraindications to thiamine replacement
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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.
