Below you will find more information about Citrullinemia from Medigest. If you believe that you are suffering from any of the symptoms of Citrullinemia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Citrullinemia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Citrullinemia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Citrullinemia is defined as a hereditary condition in which the mutations of genes cause ammonia and some other harmful substances to build up in the blood. There are two kinds of Citrullinemia, Type I and Type II. The disorder is categorized under disorders of the urea cycle, which is a series of chemical reactions taking place inside the liver.


The disorder is diagnosed through biochemical and clinical results and may be confirmed through molecular genetic testing.


A successful treatment is liver transplant to avert hyperammonemic crises. Other treatments would be to eliminate the preference of protein-rich foods, and correcting metabolic disturbances. In most infants, supplementing with vitamins that are fat-soluble, and using lactose-free formulas resolves symptoms. Diets that are lipid-rich, protein-rich, and low-carbohydrates can prevent the disorder.

Symptoms and Signs

The two forms of Citrullinemia have different symptoms and signs. Type I or Classic Citrullinemia typically turns evident a few days after birth. Infants with the disorder may appear normal, but when ammonia builds up they experience increasing lack of energy, vomiting, poor feeding, loss of consciousness, and seizures. Type II mainly affects one's nervous system, which causes restlessness, confusion, memory loss, seizures, abnormal behaviors, and coma.


Citrullinemia is inherited in a pattern called autosomal recessive. This means that both copy gene copies in every cell contain mutations.

Discuss Citrullinemia in our forums

Discuss Citrullinemia with other members of Medigest in our forums.