How is Pyruvate Dehydrogenase Deficiency Diagnosed?
Diagnosis of PDD typically involves genetic testing to identify mutations in the PDHA1 gene, which encodes the E1 alpha subunit of the PDC. Additionally, biochemical assays can measure the activity of the PDC in blood, muscle, or fibroblast samples. Elevated levels of lactate and pyruvate in the blood can also be indicative of the disorder.
