Propionic acidemia (PA)

Propionic Acidemia (PA) is a rare, life-threatening hereditary metabolic disease that results from a deficiency of the propionyl CoA carboxylase (PCC) enzyme, which is essential for metabolism. This deficiency can lead to the accumulation of acidic substances in the body. Symptoms of PA usually appear in infancy and may include low muscle tone, poor eating, vomiting, and poor energy. More serious health problems may also occur, including cardiac abnormalities, epilepsy, and coma.

The only effective treatment for severe patients is liver transplantation, which can replace the lack of PCC enzymes. Due to the complexity of PCC enzymes, which require mitochondrial localization, there are currently no approved therapies (including enzyme replacement therapies) that target the underlying causes of PA.