Question

A rare genetic disorder leads to insufficient levels of the pyruvate dehydrogenase complex (PDH). Explain why patients with this disorder can have high levels of lactic acid.

Answer 1

Pyruvate dehydrogenase complex deficiency is the rare disease which is the metabolic disease and is caused due to the mutation in the PDHA1 gene and due to this the PDC or pyruvate dehydrogenase complex becomes deficient and these complexes are related with the enzyme pyruvate dehydrogenase.

Pyruvate dehydrogenase is the enzyme that links the citric acid cycle and the glycolysis of the cellular respiration process by converting the pyruvate into acetyl CoA and sends in the cycle where it is required.

This enzyme also catalyzes the reaction of pyruvate and lipoamide and gives the acetylated dihydrolipoamide and the carbon dioxide molecule.

Due to the deficiency of this complex due to this disorder,r the level of pyruvic acid rises in the body and gets converted into lactic acid.

So because of the deficiency of the enzyme or the complex that converts the pyruvate into the required product, this process cannot occur and due to the increase of pyruvic acid in the body gets converted into lactic acid and so the patients will have a high level of lactic acid.

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