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Citrullinemia, type II

(SIT-ruh-luh-NEE-mee-uh • type • 2)

General Condition Information

Other Names

  • Citrullinemia
  • Citrullinemia II
  • Citrullinemia type II
  • Citrullinemia, type II (Citron deficiency)

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 Citrulline

What is citrullinemia, type ii

Citrullinemia, type II is an inherited (genetic) condition that prevents the body from removing ammonia properly. Ammonia is produced when the body breaks down proteins.

Citrin is a protein needed for a process in your body called the urea cycle. The urea cycle helps remove ammonia from the body. Citrin is also important for your liver to work properly and helps your body break down carbohydrates to make energy.

In citrullinemia, type II, citrin is missing or is not made correctly. If your baby does not have enough working citrin protein, the urea cycle in their body does not work well and ammonia builds up.

The buildup of ammonia, poor digestion of carbohydrates, and problems with your baby’s liver lead 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:

  • Special formulas, vitamins, and supplements
  • Low-carbohydrate diet
  • Arginine supplements to lower ammonia levels
  • Liver transplant

Children who receive early and ongoing treatment for citrullinemia, type II can have healthy growth and development.

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