| While citrulline is a necessary component of the human | | | | - Vomiting |
| body that helps to process ammonia in the urea cycle, | | | | - Altered behavior |
| some people have conditions that make processing | | | | - Seizure |
| the amino acid a real problem. | | | | - Coma |
| Citrullinemia is a genetic disorder that is inherited from | | | | - Mental retardation |
| your parents. The disorder is caused by a lack of an | | | | Citrullinemia is diagnosed typically at birth, but it can be |
| enzyme that is necessary in order to process and | | | | discovered later on during tests that identify the levels |
| remove nitrogen from the body. This enzyme is called | | | | of citrulline present in the body. These tests usually |
| argininosuccinate synthetase. Without this enzyme, the | | | | involve chromatography. |
| nitrogen accumulates in the blood in the form of | | | | The key to successful citrullinemia treatment is early |
| ammonia. The condition of having too much ammonia | | | | diagnosis. Prompt treatment can help prevent the |
| in the blood is called hyperammonemia. | | | | accumulation of ammonia in the blood and even death. |
| There are two types of citrullinemia: Type 1 and Type | | | | The most common treatments used include: |
| 2. Citrullinemia Type 1 is diagnosed in infants and | | | | - Low-protein diet |
| children. Common symptoms include: | | | | - Monitoring blood tests |
| - Vomiting | | | | - Medications |
| - Lethargy | | | | A low-protein diet is probably the most important part |
| - Lack of appetite | | | | of treatment. You will more than likely need to eliminate |
| - Coma | | | | foods like fish, eggs, poultry, meat, milk, cheese, |
| - Enlarged liver | | | | legumes, nuts, and beans. However, protein is still a |
| - Poor growth | | | | necessary part of your diet. You cannot eliminate it |
| - Breathing problems | | | | completely. This is why having an experienced |
| Citrullinemia Type 2 is diagnosed in adults and is | | | | metabolic doctor treating you is so important. A |
| typically caused by the onset of a liver disorder during | | | | dietician is equally important in ensuing that you or your |
| infancy called neonatal intrahepatic cholestasis. | | | | child obtains the nutrients he or she needs without |
| Common symptoms present in adults include: | | | | exacerbating the disease. |
| - Ammonia intoxication | | | | |