What is a urea cycle disorder?
urea cycle disorder (UCD), also known as a defect of urea cycle, is a rare genetic disorder that results in the levels of one of the six enzymes involved in the removal of ammonia in the blood. Normally six enzymes of the urea cycle catalyze the steps needed to convert nitrogen into urea. Urely urea is then removed from the body with urine. If one of these enzymes defect occurs, ammonia accumulates in the blood and causes toxicity. Treatment involves checking the intake of nitrogen compounds, such as proteins, and the use of drugs that help remove ammonia from the blood.
These disorders are rare congenital metabolic disorders involving a cycle of urea. In the urea cycle there is nitrogen, a by -product of protein metabolism, removed from the body by transforming it into urea. Also known as the ornithine cycle, nitrogen is first converted into ammonia and then into urea. There are six types of urea cycle disorders, named after which the enzyme is quite absent. These Types IncLude the n-acetylglutamate Synthase deficiency, Carbamoyl Phosphate Synthetase I Deficiency, Ornithine Transcarbamylase Deficiency, Argininosuccinic Acid Synthetase (AS) Argininosuccinic aciduria, and arginase deficiency or argininemia.
symptoms of urea cycle disorder depend on the severity of the deficiency and the speed of the diagnosis. Some infants are unable to survive outside of birth or childhood because they remain undiagnosed. It is estimated that 20% of cases of sudden infant death syndrome (SIDS) may be caused by an undiagnosed urea cycle disorder. A newborn with a UCD may show symptoms of irritability, vomiting, lethargy, seizures or hypotonia. If it remains non -spoke, the child eventually suffers from difficulty in breathing and comments and often dies.
Children who have a mood to medium UCD can show symptoms of the hyperactivity, deviant behavior, injury caused by yourself and reluctance to meat and other foods containing proteins. Mezi progresivní příznaky patří zvracení, zejména po příjmu masa nebo jiných jídel s vysokým obsahem bílkovin, delirium a letargie. These symptoms are caused by high blood levels of ammonia or hyperamonemia. It can be precipitated by events such as chickenpox or exhaustion. If it is not treated, this condition eventually leads to coma and death.
milder deficiencies of the enzyme occur in adult survivors. Adults with a cycle disorder usually suffer from episodes of symptoms of mirrored stroke and may occasionally be delirial or lethargic. They usually refer to a neurologist or psychiatrist for changes in behavior. Without proper treatment, adults with UCD can suffer from permanent brain pathologies, comments and death. Symptoms are often induced by viral infections, birth or antiseizur acid.
Treatment of any of the UCD involves a protein limit that compensates forBU individuals to essential amino acids and body inability to remove ammonia. Amino acid formulas and vitamins and minerals such as calcium can be supplemented. Medicines that help to remove ammonia can be administered through a nasogastric or gastrotomy tube. Ammonia levels are monitored by frequent blood tests. Hospitalization is often necessary and liver transplantation serves as a medicine for some urea cycle disorders.