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Pyruvate Dehydrogenase Deficiency: Mitochondrial Dysfunction Pyruvate dehydrogenase deficiency is a rare genetic condition that affects the mitochondria of the body’s cells. Mitochondria are responsible for energy production in the cells and pyruvate dehydrogenase is a key enzyme that is needed for this process. The deficiency results in a buildup of lactic acid in the blood, which can cause a variety of symptoms including muscle weakness, developmental delays, seizures, and intellectual disability. The severity of the symptoms can vary widely and may begin at any time from infancy to adulthood. There is currently no cure for pyruvate dehydrogenase deficiency, but treatments are available to manage the symptoms of the condition. These treatments may include a low-carbohydrate diet, supplements, or enzyme replacement therapy. Ataxia with Lactic: Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia with lactic is a rare disorder caused by mutations in the genes that make up the pyruvate dehydrogenase complex. This complex is responsible for converting pyruvate, a molecule that is produced by the body’s cells during the metabolism of carbohydrates, into acetyl-CoA, which is used in the energy production process in the mitochondria. The deficiency of the pyruvate dehydrogenase complex results in the buildup of pyruvate and lactic acid in the body’s cells, which can lead to symptoms such as ataxia, which is a difficulty with coordination and balance, and muscle weakness. Additional symptoms may include developmental delays, seizures, and intellectual disability. There is currently no cure for ataxia with lactic, but treatments are available to manage the symptoms of the condition. These treatments may include a low-carbohydrate diet, supplements, or enzyme replacement therapy. It is important for individuals with pyruvate dehydrogenase deficiency or ataxia with lactic to work closely with their healthcare providers to manage the symptoms of these conditions and to receive appropriate medical care. With the right treatment plan, individuals with these conditions can live long and healthy lives.
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Pyruvate Dehydrogenase Complex Deficiency Disease; Ataxia With Lactic
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Pyruvate Dehydrogenase Deficiency (PDCD): Background, Pathophysiology
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Pyruvate Dehydrogenase Deficiency - Mitochondrial Dysfunction
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