Learn More About Ornithine Transcarbamylase Deficiency Disorder
The bloodstream carries many different things throughout it. In fact, the blood has a delicate balance that needs to be maintained. Ornithine transcarbamylase (OTC) deficiency is a known genetic disease that can result in the excess accumulations in the blood. People with OTC deficiency disorder will find that ammonia levels become too high within the blood, which in turn affects the nervous system.
While this is an inherited disorder, it’s possible for it to actually begin being active at any time. In many cases the early-onset form is the most severe. This disease is far more common with males than females. While not as likely, there is also a later in life form of OTC deficiency. Without treatment, there can be severe damage to the body’s organs and intellectual development. Ornithine transcarbamylase deficiency is considered a UCD disorder.
Causes of Ornithine Transcarbamylase Deficiency Disorder
A UCD disorder affects the way that the body converts nitrogen within the bloodstream so that it can be removed. An issue with this cycle means that ammonia will build up in the body. An easy way to think of it is one item after another. Eating protein creates nitrogen. The nitrogen doesn’t get broken down. It’s stored in the bloodstream as ammonia!
OTC deficiency disorder is caused by a genetic mutation in the OTC gene. This gene is responsible for creating a specific enzyme important to the processing of the nitrogen. Since the cycle of removal is interrupted, the ammonia builds up.
Symptoms of Ornithine Transcarbamylase Deficiency Disorder
Symptoms for OTC deficiency can vary depending on what time of life they occur in. the most serious symptoms tend towards the infancy (early-onset) form of ornithine transcarbamylase deficiency disorder. Infants tend to refuse to eat and be rather letheartic. Their breathing rate and body temperature can be outside of norms and in flux. Sometimes they can have odd body movements or suffer from seizures. They can even enter a coma. If the symptoms of infantile OTC deficiency aren’t treated, then it’s very possible to suffer liver damage, intellectual disability, developmental delay, brittle hair, or many issues with their skin.
The later in life form of OTC deficiency is not as severe. The symptoms come on when the ammonia build up in the bloodstream gets too high. These symptoms can include vomiting, headaches, seizures, and a dislike of high protein foods. The most severe symptoms can be erratic behavior,episodes of delirium and episodes of reduced consciousness.
Treatment of Ornithine Transcarbamylase Deficiency Disorder
There are two main goals for treatment. The first goal is to remove excessive ammonia that is in the bloodstream. The second is to prevent excess ammonia from forming in the first place. Medications are the main way to convert nitrogen/ammonia from the body. They can be very difficult to take, and often have to be taken through a tube placed directly to the stomach passing the abdominal wall. In some cases a narrow tube can go to the stomach through the nose.
In the long term, dietary restrictions are going to be important. While protein is needed for growth, it is the stimulus that causes ammonia to form. Therefore protein consumption needs to be monitored and managed very conservatively. It’s important to note that treatment can be more or less aggressive based on how severe the ammonia levels are within the body.
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