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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pyruvate dehydrogenase deficiency


Other Names for this Disease

  • PDHC
  • Pyruvate dehydrogenase complex deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for pyruvate dehydrogenase deficiency?

Genetic testing is available for pyruvate dehydrogenase deficiency. GeneTests lists the names of laboratories that are performing genetic testing for pyruvate dehydrogenase deficiency. To view the contact information for the clinical laboratories conducting testing click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 1/4/2011

How is pyruvate dehydrogenase deficiency diagnosed?

The diagnosis of pyruvate dehydrogenase (PDH) deficiency may be considered in any individual with early-onset neurological disease, especially if it appears to be associated with structural abnormalities in the brain and unexplained lactic acidosis. When lactic acid (also called lactate) and pyruvate in the blood do not seem to be significantly high, an important clue to the diagnosis may be high concentrations of lactate and/or pyruvate in the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). Additionally, magnetic resonance spectroscopy (MRS) of the brain may show concentrations of lactate in the central nervous system.[1][2] Analysis of serum and urine amino acids usually shows hyperalaninemia (high levels of the amino acid alanine).[2]

When lactic acidosis is present, other disorders involving pyruvate abnormalities are part of the differential diagnosis. However, in all of these conditions, the diagnosis is based on specific laboratory tests. Specific enzyme tests have been designed which measure both the individual's overall PDH activity, as well as each separate component of the complex (because any defect in the complex may cause the condition). The vast majority of individuals with PDH deficiency are found to be deficient in the El enzyme, but abnormalities have also been detected in other components.[1]
Last updated: 1/4/2011

References
  1. G K Brown, L J Otero, M LeGris, R M Brown. Pyruvate dehydrogenase deficiency. Journal of Medical Genetics. 1994; 31:875-879. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016663/pdf/jmedgene00001-0059.pdf. Accessed 1/3/2011.
  2. Richard E Frye, Paul J Benke. Pyruvate dehydrogenase complex deficiency. eMedicine. November 6, 2009; http://emedicine.medscape.com/article/948360-overview. Accessed 1/3/2011.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
Other Names for this Disease
  • PDHC
  • Pyruvate dehydrogenase complex deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.