Thiamine or thiamin, also known as vitamin B1, is a colorless compound with chemical
formula C12H17ClN4OS. It is soluble in water and insoluble in alcohol. Thiamine
decomposes if heated.
Thiamine pyrophosphate (TPP) is a coenzyme for pyruvate dehydrogenase,
a-ketoglutarate dehydrogenase and transketolase. The first two of these enzymes
function in the metabolism of carbohydrates, while transketolase functions in the
pentose phosphate pathway to synthesize NADPH and the pentose sugars deoxyribose and
ribose. Systemic thiamine deficiency can lead to myriad problems including
neurodegeneration, wasting, and death. Well-known syndromes caused by lack of
thiamine due to malnutrition or a diet high in thiaminase-rich foods include
Wernicke-Korsakoff syndrome and beriberi, diseases also common in chronic abusers of
alcohol.
Thiamine pyrophosphate (TPP)Genetic diseases of thiamine transport are rare but
serious. Thiamine Responsive Megaloblastic Anemia with diabetes mellitus and
sensorineural deafness (TRMA)
(http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249270) is an autosomal recessive
disorder caused by mutations in the gene SLC19A2
(http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=603941), a high affinity
thiamine transporter. TRMA patients do not show signs of systemic thiamine
deficiency, suggesting redundancy in the thiamine transport system. This has led to
the discovery of a second high affinity thiamine transporter, SLC19A3
(http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152).
Thiamine was first discovered by Umetaro Suzuki in Japan when researching how rice
bran cured patients of Beriberi. He named it aberic acid.
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