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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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