What is citrullinemia?
Citrullinemia is a rare genetic state, most common in people of Japanese descent, where the urea cycle is interrupted and the body has problems with nitrogen processing, causing ammonia and other compounds to accumulate in the blood. This condition is one of the family disorders of urea cycle, genetic diseases where the ability of the liver to metabolize nitrogen is threatened by a lack of enzymes and may vary in the degree of severity. Some people are diagnosed in childhood, while other cases may be identified later in life. In these patients, the body has insufficient in the enzyme of arganosukinate synthetase. Citrullemia type I usually interferes shortly after birth. The patient experiences seizures, vomiting and loss of consciousness caused by extremely high levels of ammonia in the blood. Some people have a milder form that Onses Later. Morbidity and mortality from type I cases can be very high. This often occurs in adolescence or adulthood and is less serious. It is also a less common form of condition. People can be aware of rIsland of advent of adults if their parents have citrullinemia or family in general that they carry this disease and can be monitored to capture the disease early.
immediate treatment of citrullinemia, when identified, involves limiting diet protein and intravenous administration of drugs such as arginine and phenylbuty sodium to provide alternative route for nitrogen metabolism and clean blood. When the patient is stabilized, a nutritionist can work with the patient on the development of citrullinemia diet to reduce the load to metabolism and oral phenylbouty sodium and arginine will be used for more effective metabolization of the patient.
People with a family history of this condition could be carriers and may want to discuss diseases with a genetic advisor if they are preparing for children. The advisor can give advice to help the patient decide on reproduction. Genetic advisors can beAlso involved in the diagnosis and evaluation of people with citrullinemia to determine the severity of the condition and create a suitable treatment plan. They may be consulted for subsequent testing because the patient undergoes treatment to see how the patient reacts well.