What is this disease?
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Pyruvate dehydrogenase is a complex of three enzymes that convert pyruvate to acetyl-CoA, the reaction that links glycolysis to the citric acid cycle in energy metabolism in cells. You can read about it here http://en.wikipedia.org/wiki/Pyruvate_de…
The deficiency disease occurs when a mutation causes a decrease in levels of the enzyme complex, reducing the efficient production of energy in cells. A complete loss is likely lethal before birth but cases of partial loss are seen. The major symptom is lactic acidosis, an excess of lactic acid in the blood as excess pyruvate is converted to lactic acid via fermentation. You can find a bit about the syndrome with some links to papers here http://en.wikipedia.org/wiki/Pyruvate_de… Treatments tend to focus on dietary changes although there is one experimental protocol to boost residual pyruvate dehydrogenase activity. In most cases there are some developmental defects and early death, however.
The deficiency disease occurs when a mutation causes a decrease in levels of the enzyme complex, reducing the efficient production of energy in cells. A complete loss is likely lethal before birth but cases of partial loss are seen. The major symptom is lactic acidosis, an excess of lactic acid in the blood as excess pyruvate is converted to lactic acid via fermentation. You can find a bit about the syndrome with some links to papers here http://en.wikipedia.org/wiki/Pyruvate_de… Treatments tend to focus on dietary changes although there is one experimental protocol to boost residual pyruvate dehydrogenase activity. In most cases there are some developmental defects and early death, however.