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Ornithine transcarbamylase deficiency

(OR-nuh-theen • trans-KAHR-bah-mie-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 fewer than 300 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

Low levels of citrulline

What is ornithine transcarbamylase deficiency

Ornithine transcarbamylase (OTC) deficiency is an inherited (genetic) condition that prevents the body from removing ammonia properly. Ammonia is a waste product produced when the body breaks down proteins.

OTC is an enzyme that helps your body break down proteins during the urea cycle. The urea cycle helps remove ammonia from the body.

Without enough working OTC enzyme, your baby has trouble breaking down proteins and getting rid of ammonia. High amounts of ammonia can damage your baby’s brain and other organs. Left 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:

  • Diet low in protein
  • Special foods or formulas
  • Arginine and citrulline supplements to help lower ammonia levels
  • Medications to get rid of extra ammonia in the body
  • Dialysis to get rid of extra ammonia in the body
  • Liver transplant

Early and ongoing treatment for OTC deficiency can be lifesaving and can lead to better growth and development in affected children.

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