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Ornithine Transcarbamylase Deficiency

People who have problems with their urea cycle will have an ornithine transcarbamylase deficiency. This is considered a genetic disorder, which people are deficient in an enzyme in their cycle. People who experience problems with their cycle will have an increased concentration of ammonia in their urine, rather than urea.

When the enzyme is missing in the bloodstream, nitrogen converts over to ammonia. When a high concentration of ammonia enters the bloodstream, it will severely damage the brain or cause the person's death. This is how the deficiency affects people. The nitrogen converts into ammonia, rather than converting into urea and properly disposed of through the kidneys and bladder.

Patients who have this disorder need to be treated before permanent damages start to occur in the body. This disorder also can cause mental injuries, and behavioral disorders. In several cases, people will enter into a coma, or they will die from the disorder.

This disorder is commonly found in children. Many of the symptoms will not show up until they are several years old. Kids who have the disorder often exhibit erratic behavior, they try to injure themselves, and they will not eat meat or other foods that are high in protein.

Children also can experience fatigue, as well as vomiting up their food after they eat. If children are not diagnosed early enough, they will have permanent damage, or they could die. When children experience these symptoms after they were ill, parents should bring their child to the doctor for an exam.

There have been cases where children are diagnosed with this disorder after they recovered from a variety of illnesses. Some of the illnesses include: chickenpox, strep throat, or the flu. There are more cases where it develops in female children than in males.

When parents have children who have this disorder, they can search online to find out several clinics and institutes that specialize in treatment options. These places have doctors and scientists figuring out new medications and ways to prevent ammonia from building up in the body. There are also foundations that parents can go to talk with other parents who have went through the process with their child. There are children who experience many episodes throughout their life, and they need to take medication to get rid of the ammonia in their bloodstream before it causes damage.

When parents have children who are experiencing symptoms of ornithine transcarbamylase deficiency, they can find several associations online to read about the disorder. Many children start to feel symptoms of this disorder when they are in early childhood. They may experience vomiting, fatigue, or behavioral disorders. When children are undiagnosed, they may go into a coma, or even die from the disorder. Parents can find a lot of support groups online to talk to other families who have children with this disease. People can control this disease by taking medication to eliminate the high concentrations of ammonia in the bloodstream. There are doctors and scientists who work at institutes who are developing new treatment options for people who have this disease.


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