What is the lack of ornithine transcarbamylase?
The lack of ornithine transcarbamylase is a genetic disorder in which abnormally low levels of important enzyme affect the liver ability to convert ammonia into urea. As ammonia is built in the liver and bloodstream, it leads to a serious health condition called hyperammemia. A person suffering from a lack of transcarbamylase of ornithin may occur a number of neurological, pulmonary and developmental complications. Doctors usually treat the condition in adults by administration of drugs to reduce the amount of ammonia in the body and suggest a low protein diet. However, when they appear in childhood, there are few doctors to prevent permanent damage to the brain, coma and death.
Ammonia is a by -product of normal metabolic processes that convert food into usable energy for cells. In healthy liver, the enzymes of ornithin transcarbamylase help to divide the toxic compounds of ammonia into a less harmful form called urea, which is excluded from the body of the urine. Enzyme deficiency are the result of geneticMutations on X chromosome, although not all children born with problems with the condition immediately. It is common for the condition to be unnoticed until it has been affected in adolescence or adulthood.
Adult with a slight lack of ornithin transcarbamylase may not experience any physical symptoms of hyperammemia at all, although an individual with a severe low -level level may suffer from a number of health problems. Lack of ornithine transcarbamylase can result in seizures, coordination problems, disorientation and fast, shallow breathing. As hyperammemia deteriorates, this can lead to severe mood swings, anorexia and brain damage. Some people suffer from mental retardation or slip into the comments unless hyperammemia is immediately identified and treated.
Infants who show immediate signs of transcarbamylase of ornithinurmally have a strong prognosis. The state causes lethargy, vomiting, fluctuating bodiesNou temperature and malnutrition in newborns. Infants may experience liver damage, encephalitis, dimensions and death during the first months. Children who survive often suffer from permanent mental and physical disabilities.
Doctors usually diagnose the lack of ornithin transcarbamylase by looking for symptoms of hyperammemia and using blood and urine samples for laboratory analysis. Immediate treatment in the form of hemodialysis is usually necessary in infants and adults who show serious symptoms. Hemodialysis means inserting an intravenous catheter into the patient's arm to extract and filter the blood blood into its system. Sodium benzoate injections are given to the adults to help prevent the formation of new ammonia compounds.
After initial treatment, doctors can discuss long -term management plans with their patients to make sure that the deficiencies of the enzyme do not cause permanent problems. Patients are often placed on a strict food that consists of low proteins and high carbohydrates and lipids. ManyPeople are referred to by licensed nutrition experts to help them plan their diet routines. With careful monitoring of nutrition and frequent controls in doctors, most people are diagnosed with a lack of transcarbamylase of ornithine capable of leading normal and healthy life.