Pyruvate dehydrogenase is an enzyme complex that enables the transformation of the food we eat into the energy our cells need to function. Deficiency of this enzyme complex results in the accumulation of the protein pyruvate and its transformation into lactic acid or a decrease in energy production, with damage especially to the brain, which needs a significant amount of energy to function and grow.
It is a hereditary disease caused by mutation of one of the genes (PDHA1, PDHB, DLAT, PDHX, PDP1) that, through the production of the pyruvate dehydrogenase complex, allow the transformation of the protein pyruvate into acetyl-CoA, as the first step in a process that leads to the production of energy for our cells. Transmission of the disease can occur by inheriting the gene with mutation from one's mother (X-linked recessive transmission) in the case of the PDHA1 gene, or in the case where both parents are carriers of the mutation (autosomal recessive transmission), for cases where the PDHB, DLAT, PDHX, PDP1 genes are involved.
The severity of symptoms can vary greatly from subject to subject. In the most severe cases, as early as birth the child may present with below normal weight, structural lesions in the encephalon (more often in girls) and characteristic somatic appearance. In other cases, symptoms occur after the child is born, with inability to feed, lethargy, and increased respiratory rate (tachypnea). These symptoms are often associated with accumulation of ammonia and lactic acid in the body.
