Genetic defect in pyruvate dehydrogenase, Biology

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Genetic Defect in Pyruvate Dehydrogenase

A defed in any of the protein subunits of PDH can result in decrease or complete loss of activity. Severe cases are usually fatal. Symptoms of deficiency include:

a) Lactic acidosis, and

b) Neurologic disorders. .

Chronic alcoholics suffer fiom the deficiency of,thiamin, which results in the accumulation of pyruvic acid. Excess pyruvate is also reduced to lactate leading to potentially fatal pyruvic and lactic acidosis.

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