Test ID: PDHC    
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts

Evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder

This assay is intended to detect decreases in total pyruvate dehydrogenase complex (PDHC) activity; it is not designed to detect cases of pyruvate dehydrogenase (PDH) kinase or phosphatase deficiencies.

This test is not available for prenatal testing.

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 PDHC activity and is useful for the evaluation of patients with a clinical suspicion of a pyruvate dehydrogenase complex deficiency or an energy metabolism disorder.

Additional testing is necessary to determine the specific defect in the pyruvate dehydrogenase complex.

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.

• Informed Consent for Genetic Testing
• Informed Consent for Genetic Testing (Spanish)

PDHC: Colorimetric Enzyme Assay

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage