A rare metabolic disease has been discovered in Sweden, only affecting a small n

Question

A rare metabolic disease has been discovered in Sweden, only affecting a small number of individuals. It is muscular disease that is marked by a strong intolerance of exercise. Intense exercise leads to extreme muscle weakness, pain, and swelling. Even small amounts of activity can lead to heart palpitations, muscle fatigues and weakness. As the patients exercise they experience elevated levels of lactate and pyruvate in the blood. When the muscle tissues are analyzed, it is found that the mitochondria contain Fe rich inclusions. There also appears to be higher than expected levels of pyruvate lactate, and acetyl-CoA. Although all of the Krebb's Cycle metabolites were lower than normal, the amount of citrate was found to be higher than many of the other metabolites. What is the likely defect in these patients? Defend your answer.

Explanation / Answer

The condition is respiratory alkalosis. Respiratory alkalosis is a condition in which increased respiration elevates the blood pH with a concurrent reduction in arterial levels of carbon dioxide. Increased blood pH causes increase in lactate and pyruvate level of blood during exercise due to lack of oxygen (hypoxia). In respiratory alkalosis respiration is depressed which causes hypoxia. Alteration of pH influence the synthesis of citrate in Kreb's cycle. Intracellular pH of the cell influences substrate metabolism and hence the level of citrate becomes high in respiratory alkalosis condition.

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