All About Citrullinemia: How To Test For It And What You Can Do

citrulline is a necessary component of the human- Vomiting
body that helps to process ammonia in the urea- Altered behavior
cycle, some people have conditions that make- Seizure
processing the amino acid a real problem.- Coma
Citrullinemia is a genetic disorder that is inherited- Mental retardation
from your parents. The disorder is caused by aCitrullinemia is diagnosed typically at birth, but it
lack of an enzyme that is necessary in order tocan be discovered later on during tests that
process and remove nitrogen from the body. Thisidentify the levels of citrulline present in the body.
enzyme is called argininosuccinate synthetase.These tests usually involve chromatography.
Without this enzyme, the nitrogen accumulates inThe key to successful citrullinemia treatment is
the blood in the form of ammonia. The conditionearly diagnosis. Prompt treatment can help
of having too much ammonia in the blood is calledprevent the accumulation of ammonia in the blood
hyperammonemia.and even death. The most common treatments
There are two types of citrullinemia: Type 1 andused include:
Type 2. Citrullinemia Type 1 is diagnosed in infants- Low-protein diet
and children. Common symptoms include:- Monitoring blood tests
- Vomiting- Medications
- LethargyA low-protein diet is probably the most important
- Lack of appetitepart of treatment. You will more than likely need
- Comato eliminate foods like fish, eggs, poultry, meat,
- Enlarged livermilk, cheese, legumes, nuts, and beans. However,
- Poor growthprotein is still a necessary part of your diet. You
- Breathing problemscannot eliminate it completely. This is why having
Citrullinemia Type 2 is diagnosed in adults and isan experienced metabolic doctor treating you is
typically caused by the onset of a liver disorderso important. A dietician is equally important in
during infancy called neonatal intrahepaticensuing that you or your child obtains the
cholestasis. Common symptoms present in adultsnutrients he or she needs without exacerbating
include:the disease.
- Ammonia intoxication