DCA inhibits private dehydrogenase kinase.
Pyruvate dehydrogenase deficiency is characterized by lactic acid buildup in the body and a variety of neurological problems. This condition's signs and symptoms typically appear shortly after birth and can vary greatly between affected individuals.
PDCD is most commonly caused by mutations in the gene encoding the E1 alpha subunit, also known as the E1-alpha subunit pyruvate dehydrogenase gene or PDHA1. There are numerous PDCD-causing abnormalities in the PDHA1 gene, also known as PDHA1 variants. PDC deficiency is diagnosed using laboratory tests such as blood tests, urine analysis, and brain MRI. The pyruvate dehydrogenase enzyme can be used to confirm the diagnosis.
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