propionic acidemia

Propionic acidemia is a metabolic disorder caused by a deficiency in the enzyme propionyl-CoA carboxylase. This deficiency leads to an accumulation of propionic acid in the body.1

Pathology:
* Individuals with propionic acidemia typically experience severe illness in infancy, characterized by high levels of acid in the blood (acidemia), dehydration, lethargy, and low white blood cell counts.1
* Abnormal metabolites can also inhibit the urea cycle, leading to elevated ammonia levels in the blood.1
* The primary treatments involve dietary restriction of branched-chain amino acids, carnitine supplementation, and managing metabolic crises with intravenous fluids, glucose, and bicarbonate.1

Propionic acid itself is a liquid with a sharp odor, found in milk and various distillates, and is used as a mold inhibitor and flavoring agent.2