Propionic Acidemia And Diet Therapy

Propionic acidemia (PA) is an autosomal recessive propionate catabolism disorder characterized by the accumulation of metabolites of branched-chain amino acid catabolism. Acute disease causes metabolic acidosis, changes in consciousness, encephalopathy, anorexia and nausea-vomiting, while chronic complications include poor growth, movement disorders, and epilepsy. The accumulation of propionyl-CoA, which is metabolically active in PCC deficiency, affects many other metabolic pathways, increasing the concentrations of organic acids in the urea. Carnitine supplementation, liver transplantation and low-protein diet therapy are some of the important methods in the treatment of the disease. Carnitine reduces DNA damage induced by propionic acidemia. Liver transplantation provides only partial correction of metabolic defect. The aim of nutritional therapy is to reduce the production of propionate. For this reason, prolonged starvation should be avoided by limiting precursor amino acids using a low protein diet. It is important that patients practice their diet without disrupting their diet