2) A patient exhibits extreme lactic acidosis (buildup of lactate in the body). Genome sequencing reveals...

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Biology

2) A patient exhibits extreme lactic acidosis (buildup oflactate in the body). Genome sequencing reveals a mutation in thegene coding for the E1 subunit of the PDH complex. This mutation isknown to increase the Km of PDH for TPP.
a) In two to three sentences, explain how this mutation could leadto extreme lactic acidosis.(2 pts)
b) For each of the statements below, identify whether you wouldrecommend or not recommend the treatment. Then, explain yourreasoning and/or possible effects on the individual.
Statement 1:
Provide the patient with a high carbohydrate diet. (2 pts)
Statement 2:
Administer thiamine, a precursor of TPP, to the patient. (2pts)

Answer & Explanation Solved by verified expert

4.4 Ratings (698 Votes)

a Normally the E1 subunit of the PDH complex uses TPP and pyruvate to initiate the complex reaction that ultimately releases acetylCoA The mutationinduced increase in Km for TPP of the E1 downregulates the oxidative decarboxylation of pyruvate to acetylCoA Consequently further oxidation of See Answer

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