Propionic acidemia (PROP)
Propionic acidemia (PROP) is an inborn error of metabolism, an inherited condition in which an enzyme, propionyl-CoA carboxylase, in the body is either missing or not working well to process certain proteins and fats. Propionic acidemia is an organic acid condition because it can lead to the build-up of harmful amounts of organic acids and toxins in the body. Symptoms of propionic acidemia can vary and may include poor appetite or feeding, vomiting, extreme tiredness/lethargy, low muscle tone (hypotonia), developmental delay, seizures, heart problems, and/or other potential signs and symptoms. Propionic acidemia can be a life-threatening condition. Illnesses or infections, going too long without food, or eating large amounts of protein are some examples of circumstances that could also trigger symptoms of propionic acidemia. Management often includes a special diet and medication/supplements, and may include other treatments or special precautions and emergency management recommendations. Support groups are available to help connect families living with propionic acidemia with others who have experience or expertise with this condition.
To learn more about Propionic acidemia, visit Baby's First Test: Propionic acidemia and Screening, Technology, and Research in Genetics (STAR-G): Propionic acidemia. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.