Too Much Ammonia? It Could Be Ornithine Transcarbamylase Deficiency Disorder

The body ingests many things and creates many byproducts. The point of urine and feces is to help remove the byproducts which are not required. Many parts of the body work to complete these functions together. However, if just one item isn’t being removed correctly, then the body can be in serious trouble. 

People who suffer from ornithine transcarbamylase (OTC) deficiency disorder have to deal with a buildup in ammonia in their bloodstream. This is a serious and dangerous condition. The nervous system and liver are especially at risk. Since OTC deficiency is most common in younger children, it’s especially painful for it to wreak havoc on the potential futures of these young children. 

How Does it Work? 

When the body eats protein, it produces nitrogen. Any condition which interrupts with the waste products of breaking down protein is considered a UCD disorder. In the case of OTC deficiency disorder, it’s the nitrogen that’s produced from protein breakdown that is an issue. 

The OTC gene is one of those responsible for breaking down the nitrogen and transforming it so that it can be expelled from the body. People with OTC deficiency disorder are missing or have a damaged OTC gene. The nitrogen that would normally leave the body instead forms ammonia. This is especially dangerous. Ammonia can cause a lot of damage to the nervous system and the liver. 

Symptoms to Expect

There are many different symptoms that can affect someone afflicted with OTC. The symptoms can vary depending on if it’s a case affecting a younger child, or if it’s late-onset OTC deficiency. The symptoms for early-onset include:

• Unwilling to Eat - Infants or toddlers may have a natural aversion to food. 
• Lack of Energy - Affected children can be rather lethargic when they should be more active. 
• Irregular Body Temperature - Temperature can fluctuate several degrees. 
• Irregular Breathing Rates - Children with OTC deficiency may seem like they are racing for breath, or taking very slow breaths. 
• Seizures - This is a serious and dangerous symptoms associated with OTC deficiency. 
• Odd Body Movements - Children may make unusual movements with their body can be quite unexpected in form and timing. 
• Coma - Going into a coma is arguably the most severe and dangerous of the symptoms of early-onset OTC deficiency. 

The Symptoms for late-onset deficiency are mostly different. They occur when the body is experiencing high ammonia levels. They include:

• Headaches
• Vomiting
• Dislike of High Protein Food
• Seizures
• Erratic Behavior
• Moments of Delirium
• Reduced Consciousness

What Can Be Done?

Medication can be an important part of treatment for OTC deficiency. Medication is the key method of removing excess levels of nitrogen/ammonia from the body. They bypass much of the cycle the body uses to remove the excess nitrogen. However, these medications are very severe and most people are unable to take them orally as they are unpalatable. The most common administration method is through a narrow tube through the nose to the stomach, or a gastronomy tube straight through the abdominal wall. 

Another aspect of treatment will be the alteration of diet. People with OTC deficiency will need to alter their diets to minimize their intake of protein. This can be very difficult for children as they often need the protein for growth. Many calorie heavy and amino acid supplements may be used for affected children. 

It’s important to note that treatment needs to be very prompt if people are showing very high ammonia levels. Avoiding potential coma is of the utmost and early treatment is crucial to slowing the overall progression of damage done to the body.