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Isovaleric acidemia

(ie-soh-vuh-LAIR-ik • a-suh-DEE-mee-uh)

General Condition Information

Other Names

  • Isovaleric acidemia (isovaleryl-CoA dehydrogenase)
  • Isovaleryl CoA dehydrogenase deficiency

Condition Type

Birth Prevalence

It is estimated that less than 20 babies are born each year with this condition in the United States. 

Screening Finding

Elevated C5 acylcarnitine

What is Isovaleric acidemia

Isovaleric acidemia is an inherited (genetic) condition that prevents the body from breaking down certain proteins.

Isovaleric acidemia is caused by unusually low levels of isovaleryl CoA dehydrogenase. Isovaleryl CoA dehydrogenase is the name of an enzyme in your body that helps you digest a part of some proteins called leucine.

If the isovaleryl CoA dehydrogenase your baby has does not work well, they will have trouble breaking down proteins containing leucine. This condition can be more or less severe depending on how well your baby’s enzyme works. The acute form is more severe, and the chronic/intermittent form is less severe.

Waste, including toxins, can build up when the body does not process proteins. Toxins that are acids cause your blood to become acidic. Acidic blood is called acidemia. These toxins can damage your baby’s brain and nerves. If untreated, this damage leads to the signs and symptoms of the condition.

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:

  • Frequent feedings to avoid long periods without food
  • Glycine supplements
  • L-carnitine supplements 
  • Diet of special formulas or foods in some cases

Children who receive early and ongoing treatment for isovaleric acidemia can have healthy growth and development.

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