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Ornithine translocase deficiency

OR-nuh-theen • trans-LOH-kase • di-FISH-uhn-see

General Condition Information

Other Names

  • Hyperornithinemia
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Condition Type

Birth Prevalence

  • It is unknown how many babies are born with this rare condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Increased ornithine

What is Ornithine translocase deficiency

Ornithine translocase deficiency is an inherited (genetic) condition that prevents the body from breaking down a substance in the blood called ornithine. Ornithine is an amino acid, one of the building blocks that makes up proteins.

Mitochondrial ornithine transporter 1 is a protein that helps your body transport ornithine. Ornithine is used in a bodily process called the urea cycle. The urea cycle helps remove a waste product called ammonia from the body. The body produces ammonia by breaking down proteins. Ornithine also helps make sure that the body has the right balance of other amino acids in the body to properly produce proteins.

If your baby does not have enough working mitochondrial ornithine transporter 1, they can have trouble breaking down ornithine and getting rid of ammonia. High amounts of ornithine and ammonia can damage your baby’s brain and body. 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:

  • Diet low in certain proteins
  • Special formula or food
  • Supplements or medications

Children who receive early and ongoing treatment for Ornithine translocase deficiency can lead healthier lives.

Date Last Reviewed: