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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