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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.
Why do the sons of a haemophiliac father never vary from this trait? Why is the cleavage in mammals referred as simple homoplastic?
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