Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder
Pyruvate dehydrogenase complex (PDHC) deficiency is a rare mitochondrial disorder with a clinical presentation consisting of metabolic and neurological components of varying severity.
PDHC should be considered in patients with early-onset neurological disease and unexplained lactic acidosis, especially if structural brain abnormalities are present.
This assay is intended as a screening test to detect decreases in total pyruvate dehydrogenase complex (PDHC) activity and is used for the evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder. It is not designed to detect cases of pyruvate dehydrogenase (PDH) kinase or phosphatase deficiencies. Additional molecular or enzymatic testing is necessary to determine the specific defect in the pyruvate dehydrogenase complex. Call 800-533-1710 for test options.
Test ID | Reporting Name | Available Separately | Always Performed |
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FIBR | Fibroblast Culture | Yes | Yes |
CRYOB | Cryopreserve for Biochem Studies | No | Yes |
When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 30 days, client will be notified.
PDHC: Colorimetric Enzyme Assay
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage