DISEASES

Disease-gene associations mined from literature

Human genes for pyruvate decarboxylase deficiency

Pyruvate decarboxylase deficiency [DOID:3649]

Thiamine pyrophosphate (TPP or ThPP), or thiamine diphosphate (ThDP), is a thiamine (vitamin B1) derivative which is produced by the enzyme thiamine pyrophosphatase. Thiamine pyrophosphate is a coenzyme that is present in all living systems, in which it catalyzes several biochemical reactions. It was first discovered as an essential nutrient (vitamin) in humans through its link with the peripheral nervous system disease Beriberi, which results from a deficiency of thiamine in the diet.

Synonyms:  pyruvate decarboxylase deficiency,  DOID:3649,  deficiency of pyruvic dehydrogenase,  pyruvate dehydrogenase complex deficiency disease,  pyruvate dehydrogenase deficiency ...