Citrullinemia is a genetic disorder that is inherited from your parents. The disorder is caused by a lack of an enzyme that is necessary in order to process and remove nitrogen from the body. This enzyme is called argininosuccinate synthetase. Without this enzyme, the nitrogen accumulates in the blood in the form of ammonia. The condition of having too much ammonia in the blood is called hyperammonemia.



There are two types of citrullinemia: Type 1 and Type 2. Citrullinemia Type 1 is diagnosed in infants and children. Common symptoms include:

-Vomiting

-Lethargy

-Lack of appetite

-Coma

-Enlarged liver

-Poor growth

-Breathing problems

Citrullinemia Type 2 is diagnosed in adults and is typically caused by the onset of a liver disorder during infancy called neonatal intrahepatic cholestasis. Common symptoms present in adults include:

-Ammonia intoxication

-Vomiting

-Altered behavior

-Seizure

-Coma

-Mental retardation

Citrullinemia is diagnosed typically at birth, but it can be discovered later on during tests that identify the levels of citrulline present in the body. These tests usually involve chromatography.

The key to successful citrullinemia treatment is early diagnosis. Prompt treatment can help prevent the accumulation of ammonia in the blood and even death. The most common treatments used include:

-Low-protein diet

-Monitoring blood tests

-Medications

A low-protein diet is probably the most important part of treatment. You will more than likely need to eliminate foods like fish, eggs, poultry, meat, milk, cheese, legumes, nuts, and beans. However, protein is still a necessary part of your diet. You cannot eliminate it completely. This is why having an experienced metabolic doctor treating you is so important. A dietician is equally important in ensuing that you or your child obtains the nutrients he or she needs without exacerbating the disease.