06/23/2026
🚨 Understanding a life-threatening metabolic emergency 🚨
Propionic Acidemia (PA) is a rare, autosomal recessive condition caused by a change in the PCCB gene. This gene is provides the instructions for making the propionyl-CoA carboxylase enzyme, which is involved in the breakdown of proteins and certain types of fat and cholesterol.
When the propionyl-CoA carboxylase enzyme is missing or inactive, toxic compunds build up in the body, leading to significant damage to the brain and nervous system.
Because it is an autosomal recessive condition, individuals need to inherit two copies of the mutation in the PCCB gene (one from each parent) in order to be affected.
Key symptoms include: 🔹Loss of appetite and poor feeding 🔹Vomiting 🔹Low muscle tone 🔹Lack of energy 🔹Failure to thrive
Without early intervention, these symptoms may progress into more serious complications, including coma and death. Later onset Propionic Acidemia is less common and symptoms may come and go over time.
At DDC Clinic, our lab offers genetic testing for Propionic Acidemia through Targeted Variant Analysis. This condition is also included on our Genetic Awareness Panel (GAP).
To learn more, visit: ddcclinic.org.