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Propionic acidemia

(proh-pee-AH-nik • A-suh-DEE-mee-uh)

General Condition Information

Other Names

  • Propionic acidemia (propionyl-CoA carboxylase)
  • Propionyl CoA carboxylase deficiency
  • Proprionic acidemia

Condition Type

Birth Prevalence

  • Over 30 babies are born with this condition every year in the United States.
  • It is more common in the Inuit of Greenland, some Amish communities, and in the Middle East.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Increased C3 acylcarnitine (also known as propionyl carnitine) +/- increased methylcitric acid

What is Propionic acidemia

Propionic acidemia is an inherited (genetic) condition that prevents the body from breaking down certain proteins, fats, and cholesterol. Breaking down proteins and processing fats is very important for your body to work properly.

In propionic acidemia, an enzyme called propionyl-CoA carboxylase does not work correctly. This enzyme helps digest certain proteins, fats, and cholesterol so that your body can either use or get rid of them.

Without enough functioning propionyl-CoA carboxylase enzyme, your baby will have trouble making energy and getting rid of waste. This condition can be more or less severe depending on how well this enzyme works in your baby’s body.

When your baby cannot break down waste, toxins can build up. When these toxins are acids, your baby’s blood can become acidic. Acidic blood is called acidemia. If untreated, acidemia can cause brain damage that leads to the signs and symptoms of the condition. In severe cases, this condition can result in coma or death unless treated early.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

  • Diet low in certain proteins and fats
  • Special formulas and foods
  • Regular and frequent meals and snacks
  • Biotin and carnitine supplementation in some cases
  • Antibiotics in some cases

Early and ongoing treatment for propionic acidemia can help reduce and prevent some of the early signs and symptoms. Even with treatment, some children might still have developmental delays or learning difficulties.

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