Urea Cycle Disorders: Causes, Symptoms and Treatment

Urea cycle deviations have sponsored urea cycle disorders when patients with a lack of one of the urea cycle of enzymes suffer from high blood ammonia as ammonia in amino acid changes glutamine. Amrenitin, and arginine in the kidney or an Orenyin is an orthopedrin, a mitochondria. The urea cycle in the liver takes place and is responsible for converting toxic ammonia due to the analysis of proteins in the body after urea, and can be secreted by urine. Types of urea cycle disorders There are two main types of urea cycle disorders, which are as follows: 1. The complex urea cycle disorder is where the child in question suffers from a complete shortage of the enzyme responsible for regulating the urea cycle in the body. 2.. Partial urea cycle disorders The child suffers from a lack of enzyme, but not quite as the body can produce it, but not to the extent that the body needs. Symptoms of urea cycle disorders The symptoms differ according to the type of disorder as in the following: 1. Symptoms of full urea cycle disorders The symptoms of the child appear on the first days of his life, the most prominent: nausea. Vomiting. Edema in the brain. Disorders to the degree of awareness. Seizures. Hyperventulation. Malnutrition and reluctance to breastfeed. Low body temperature. Standing problems. Patients and mental development disorders appear over time. 2.. Symptoms of partial urea cycle disorder due to the presence of a part of the enzymes in the body, the symptoms may be delayed for several months or years, the most prominent: not eating foods rich in protein, such as: meat. Malnutrition. Nausea and vomiting. Behavioral problems, such as: hyperactivity and movement. Spiritual problems, such as: confusion, hallucinations, deceptions and spirit. The causes and facts of the risk of urea cycle disorders occur in the enzymatic shortage of the urea cycle due to genetics, is a recessive physical heritage (autosomal recessive), with the exception of those related to the enzyme of 3 on the X chromosome (X), and as a result of this deficit, the shortage of an acute illness, and a result of this deficit, The liver may be the operation of the operation of the operation of the operation of the works in the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the operation of the work. From the chromosomes x we ​​find that females are to a different extent of enzyme 3 deficiency. If both parents carry one gene, the appearance of the infection will be as follows: 25% of the child’s urea cycle disorders. 50% is the possibility of a healthy child, but it is pregnant with the injured gene without symptoms. 25% is the possibility of a healthy and non -pregnant child. The complications of urea cycle disorders do not treat ammonia in the blood can lead to the following complications: brain damage. Faint. death. The diagnosis of urea cycle disorders in the case of symptoms on the child is diagnosed as follows: 1. A physical examination that the doctor clinically examines the patient and then asks about the child’s sick family history. 2.. The execution of the imbalance is diagnosed by performing the following tests: Investigation of amino and organic acids in the blood. Investigation of the presence of uric acids in the urine using special devices, as the deficiency in one of the enzymes causes a accumulation of the basic substance from which the enzyme comes, and the high percentage of amino acid indicates the location of the defect. The confirmation of the diagnosis is done by measuring the activity of enzymes in the liver. Take a sample of skin cells. Learn the specific mutation in the enzyme -coded gene. 3. The measurement of the percentage of urea can be measured the severity of the imbalance in the urea cycle, but its location cannot be determined by taking radioactive ammonia and measuring the radioactive urea in the blood after regular periods. The treatment of urea cycle disorders The treatment is a process that lasts life and does not completely treat the condition, but it can effectively relieve symptoms as blood tests are performed regularly to continue monitoring ammonia levels, and doctors will work in the fields of pediatrics, genetics and nutrition to develop a child treatment. The child is treated as follows: 1. A low protein and high -calorie diet. Protein in the diet is reduced by avoiding protein -rich foods. Examples of foods that provide calories without the body get protein: Fruit. Vegetable. Starch. However, the protein is important for growth, so proteins should be limited with advice from a healthcare person, as a dietician will plan and modernize a protein -limited diet with the growth of the child, and some children may need to eat special nutrients to ensure that they get proper nutrition. 2. Drug therapy some children need to take medicine to remove excess ammonia from the body, where the drug is orally given associated with ammonia and secreted it into the urine. 3.. EMine -acid supplements, depending on the type of urea cycle disorders, the amino acid supplements can be added, such as: Arginine or citrulin to the diet to help the body provide what it needs to make important proteins for growth and recovery of tissues, as children with urea cycle disorder cannot produce on their own argin. 4. The liver transplant process as the production of urea cycle takes place in the liver. The liver implant can be an effective treatment for urea cycle disorder. Prevention of urea cycle disorders There is no way to prevent urea cycle disorders; This is because it is genetically transmitted, but early diagnosis can help and not neglect symptoms to light the child’s symptoms.