Question

A patient exhibits extreme lactic acidosis (buildup of lactate in the body). Genome sequencing reveals a mutation in the gene coding for the E1 subunit of the PDH complex. This mutation is known to increase the Km of PDH for TPP.

a) In two to three sentences, explain how this mutation could lead to extreme lactic acidosis.

b) For each of the statements below, identify whether you would recommend or not recommend the treatment. Then, explain your reasoning and/or possible effects on the individual.

Statement 1: Provide the patient with a high carbohydrate diet.

Statement 2: Administer thiamine, a precursor of TPP, to the patient.

Answer 1