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Genetic and Rare Diseases Information Center (GARD)

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Pyruvate dehydrogenase deficiency

Other Names for this Disease
  • PDHC
  • Pyruvate dehydrogenase complex deficiency
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How might pyruvate dehydrogenase deficiency be treated?

Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease,[1] but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the condition. However, even with treatment, damage to the central nervous system is common.[2] Lactic acid accumulation may be lessened by giving a high fat/low carbohydrate (ketogenic) diet, but this does not alleviate the neurological symptoms, because structural damage in the brain is typically present from before birth.[1] There is some evidence that a medication called dichloroacetate may reduce the metabolic issues in some patients. The standard of care is to supplement cofactors, which are substances in the body that help the chemical reactions in the cells to occur; these include thiamine, carnitine, and lipoic acid. The individuals with PDH deficiency that respond to these cofactors (especially thiamine) usually have a better outcome. However, giving all of these cofactors to all patients with PDH deficiency is typical in order to optimize pyruvate dehydrogenase complex function.[2] Oral citrate is often used to treat acidosis.[2]
Last updated: 1/4/2011

  1. G K Brown, L J Otero, M LeGris, R M Brown. Pyruvate dehydrogenase deficiency. Journal of Medical Genetics. 1994; 31:875-879. Accessed 1/4/2011.
  2. Richard E Frye, Paul J Benke. Pyruvate dehydrogenase complex deficiency. eMedicine. November 6, 2009; Accessed 1/3/2011.

Clinical Trials & Research for this Disease

  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".