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Pyruvate carboxylase deficiency

(pie-ROO-vayt • KAHR-bahk-suh-lace • di-FISH-uhn-see)

General Condition Information

Other Names

There are no other recognized names for this condition.

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Condition Type

Birth Prevalence

  • It is estimated that approximately 15 babies are born with this condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Increased citrulline

What is pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency is an inherited (genetic) condition that prevents the body from completing several important processes.

Pyruvate carboxylase deficiency occurs when an enzyme called pyruvate carboxylase does not work correctly. Pyruvate carboxylase helps mitochondria produce energy in our cells.

Pyruvate carboxylase helps the body make glucose, a sugar the body uses for energy. It also helps remove lactic acid and ammonia from the body. Lactic acid and ammonia are waste products produced when the body breaks down sugars and protein. And, it helps make myelin and neurotransmitters, which help send signals from the body to the brain.

There are three types of Pyruvate carboxylase deficiency – type A, type B, and type C – that differ in signs, symptoms, and age of onset. We do not fully understand what causes the different types of Pyruvate carboxylase deficiency.

Without enough glucose, myelin, and neurotransmitters, the body cannot make enough energy and cannot send nerve signals throughout the body. Lactic acid and ammonia also build up to toxic levels and can damage the body. This 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 how to best care for your baby. Currently, the treatment options available cannot stop the progression of the condition. Health care providers will develop a plan that is tailored to the needs of each child.

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