Urea Cycle Disorder – Diagnosis, Symptoms & Treatments Guide?

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A Urea Cycle Disorder (UCD) is a type of genetic disorder that occurs because of a mutation. The mutation causes a deficiency in one of six enzymes. These enzymes are used to remove ammonia from the blood stream. The urea cycle is a series of chemical stages through which nitrogen is taken out of blood and converted into a compound called urea.

Usually, urea becomes urine and is removed from the body. However, people with UCD mean that nitrogen accumulates in their blood and turns into ammonia, and this is highly toxic. If this ammonia reaches the brain via the blood then it can cause permanent brain damage, coma, or death.

What Causes Urea Cycle Disorder?

Since Urea Cycle Disorder is a genetic disorder, this means that it is passed on from parent to child through their DNA. The severity and onset of the disorder can vary from person to person and depends on the specific mutation, too.

If the mutation is extremely severe it can mean there is next to no enzyme function, causing the body to not have the ability to remove the nitrogen and ammonia. However, the UCD has a spectrum of severities, with some sufferers able to detoxify ammonia to some extent. Approximately 1 in 30,000 newborns have UCD.

What Are The Symptoms?

UCD is most frequently diagnosed during infancy, but some children may not exhibit symptoms until early childhood. After birth, children with UCD will likely show symptoms within 24 hours.

It is worth remembering that all of these symptoms may not be present at the same time. However, often the baby will consistently be very sleepy and irritable while also having problems feeding, including vomiting. This may be followed by trouble breathing, seizures, or a coma.

Symptoms that may appear in children with a mild or moderate UCD can include disliking meat and other protein rich foods, consistent vomiting and nausea, hyperactive behavior, and confusion. The child may also be difficult to wake and be tired more often. As an extreme, they may fall into a coma.

What Are The Treatments For Urea Cycle Disorder?

There is currently no cure for UCD, so treating it must be continued throughout a person’s lifetime. However, there are ways to effectively manage the symptoms. A frequent blood test will need to be taken in order to monitor a person’s ammonia levels.

Treatment is likely to include a change in diet to one that is low in protein but high in calories, medication specially designed to help with the specific type of UCD a person has, and potentially a liver transplant. A liver transplant can be an effective treatment for UCD as this is where urea cycle enzymes are produced.

What Are The Potential Medications?

Enulose is a medication developed by Actavis which is specially designed to reduce the amount of ammonia in the blood. It can be taken either orally (through the mouth) or rectally 3-4 times per day. Possible side effects include gas, bloating, burping, stomach rumbling or pain, nausea, and cramps. If any of these issues persist, you should contact a medical professional.

Enulose is an effective medication for removing ammonia from the blood stream. The side effects are relatively minor and other medication can be taken to combat any nausea it causes. As long you don’t suffer from any of the more severe side effects, Enulose can be an effective treatment. It contains Lactulose and generic options are available that could be a cheaper option with the same results.

Ammonul uses sodium benzoate to help the body create less ammonia and prevent UCD symptoms. Ammonul can cause nausea and vomiting but these side effects can be reduced through also taking anti-nausea medication. However, Ammonul also has a lot of other side effects, and if any of them are identified a medical professional should be contacted. These side effects include mood changes, muscle pain, irregular heartbeat, problems with movement, bruising, coughing or vomiting blood, and a lot of other potential side effects.

Ammonul may treat UCD, but the list of potential side effects means that it can be a reluctant treatment that may only cause more problems than it solves. Ammonul makes all of these side effects and benefits clear to the patient in their packaging, but other medication should probably be considered before sodium benzoate as some of the side effects can be dangerous.

L-Citrulline like the product made by Transparent Labs is a dietary supplement that can also be used to treat UCD. L-Citrulline is effective in removing ammonia from the bloodstream and it can be taken as part of a regular diet. Since L-Citrulline occurs in the body naturally there are thought to be few if any side effects.

However, there has been little research conducted into this area and a patient should check with their doctor before taking it. A lot of people suffering from UCD take L-Citrulline supplements on a daily basis in one form or another. This is one of the best ways at the moment for treating UCD as it isn’t invasive and there are few side effects.

Transparent Labs is a supplements specialist, so they know their stuff when it comes to L-Citrulline. While it is traditionally used for sports professionals, the fact that it can help to treat the symptoms of UCD is certainly a boon. All of their products can be purchased directly from their website or from specialist stores.

Urea Cycle Disorder Conclusion

UCD is a relatively rare genetic disorder, but one that there is currently no cure for. There are treatments available but they each have their downsides and none of them are an easy win.

In the future, we can only hope that doctors are able to identify new treatments and potential cures.

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