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A Required Parameters of Pyruvate Dehydrogenase Complex Deficiency (PDCD) Include Etiology, Clinical Description, Diagnostic Methods, Features of Primary PDCD, Differential Diagnosis, Management as well as Treatment and Prognosis
Abstract
Although its onset varies, Pyruvate Dehydrogenase Complex Deficiency (PDCD) is a rare genetic mitochondrial disorder that impairs the metabolism of carbohydrates and causes severe neurological dysfunction, lactic acidosis, and energy failure. It frequently results in early childhood death. resulting from mutations in the gene (usually PDHA1), It prevents pyruvate from being converted to acetyl-CoA, which stops the citric acid cycle and results in pyruvate/lactate accumulation that affects the heart, brain, and muscles. Although effective treatment is still scarce, management centers on ketogenic diets, supplements (thiamine, carnitine), and occasionally dichloroacetate.
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