Pyruvate dehydrogenase complex deficiency (PDCD) is an inherited metabolic disorder caused by a deficiency of the enzyme pyruvate dehydrogenase complex (PDC). PDC is responsible for the conversion of pyruvate to acetyl-CoA, an important reaction in the metabolic pathway of energy production. PDCD is caused by mutations in any of the genes that are responsible for the production of the enzymes that make up PDC.
PDCD is typically diagnosed through genetic testing to identify the genetic mutation responsible for the disorder. Other tests, such as a blood test to measure levels of lactic acid, pyruvate and other metabolic markers, can also be used to diagnose PDCD.
Differential diagnoses for PDCD include other metabolic disorders such as lactic acidosis, fatty acid oxidation disorders, and mitochondrial disorders.
Treatment of PDCD is generally supportive and aimed at managing symptoms. This may include a specialized diet, supplements, and medications to help manage the symptoms.
The prognosis for those with PDCD depends on the severity of the disorder and the individual’s response to treatment. In general, those with mild forms of PDCD may have a better prognosis than those with more severe forms of the disorder.