A patient comes to you complaining of tiredness, shortness of breath and sorenes

Question

A patient comes to you complaining of tiredness, shortness of breath and soreness. You do blood work and find the levels of pyruvate in the blood and urine is too high. Name one possible genetic cause that could result in these symptoms and explain how thi pyruvate accumulation. a. is would make pyruvate levels high. Hint: Focus on proteins that may cause Name one possible dietary cause that could result in these symptoms and explain how this would make pyruvate levels high. Hint: Focus on cofactors that may cause pyruvate accumulation. b.

Explanation / Answer

a. Pyruvate dehydrogenase complex (PDC) deficiency is a genetic disease in which mutation in the gene coding for pyruvate dehydrogenase leads to reduced or no acitivity of pyruvate dehydrogenase which results in pyruvate accumulation.

b. Dietary deficiency of thiamine leads to lesser thiamine pyrophosphate (TPP) which is a coenzyme for pyruvate dehydrogenase. So deficiency in thiamine also leads to reduced or no acitivity of pyruvate dehydrogenase which results in pyruvate accumulation.

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