Urea Cycle Disorder, also known as UCDs, refers to a condition that inhibits your body’s ability to remove waste while digesting proteins to a certain extent depending on the severity of the disorder. It is usually an inherited disease and is most prevalent amongst infants and young children. 


What is Urea Cycle Disorder?

The protein in the food consumed is broken into amino acids by the body. The needed amount is absorbed, and the rest of it is discarded through the discharge of waste from the body. The Urea cycle consists of a set of steps. It involves producing vital enzymes made by the liver. These enzymes convert nitrogen into urea, and this urea, in turn, leaves the body through urine. UCD occurs when there is a disruption in this very cycle. This disruption leads to the accumulation of ammonia, which is a very toxic substance. The accumulation of ammonia in the body for a long time has severe consequences in the future in the form of possible brain damage and coma. 


Who gets this disease?

According to statistics, it has been observed that one out of approximately 35,000 newborn gets this disease. If there is a complete deficiency of the essential enzymes, symptoms surface within the first 24 hours of being born. Thus, the condition is usually detected during infancy. Although, there are also some children in whom the symptoms start showing only during early childhood. Of late, the disorder has become prevalent in adults as well. However, it has been observed that these adults only have a mild form of the disorder and is easily treatable. 


What are the symptoms of Urea Cycle Disorder?

There are different symptoms for different levels of severity of the disorder. Let us list the symptoms accordingly. 

If there is a complete UCD in a child, the following symptoms surface.

  • Vomiting
  • Low body temperature
  • Agitation
  • Tired and sleepy
  • Issues in feeding
  • Issues with posture
  • Rapid breathing which suddenly slows
  • Seizures
  • Coma

In the case of partial UCD in a child, the following symptoms surface.

  • Appetite loss
  • Vomiting or nausea
  • Inconsolable crying
  • Dislike of high protein food especially meat
  • Behavioral abnormalities such as hyperactivity
  • Mental issues such as delusions, confusion, hallucinations

In adults diagnosed with this condition, the following symptoms have been observed.

  • Disorientation
  • Lethargy
  • Confusion
  • Stroke like symptoms
  • Indistinct speech
  • Delirium

How is the diagnosis of Urea Cycle Disorder done?

It is crucial that the disease is diagnosed as soon as possible. Look for medical help the moment you observe symptoms. Urine and blood samples are collected and analyzed to test the ammonia levels. Liver biopsy is also done in case some enzymes show levels of activity. In many cases, genetic tests are also conducted. A CT scan or an MRI is also needed in many cases to check if there has been any swelling in the brain due to high ammonia levels. 


What is the treatment of Urea Cycle Disorder?

The Urea Cycle Disorder can be fatal and requires immediate attention. Therefore, do not delay treatment at any cost. The usual treatment process starts with the following three procedures, which are generally done parallelly. 

  • Feeding the baby supplements of fats, amino acids, and sugar
  • Medicines for removing excess nitrogen
  • Dialysis for removal of ammonia from the blood

The child needs to be under long term treatment so that the symptoms do not resurface. In case there are any other illnesses, the enzyme levels could get affected, and the patient will then require extra calories, which will act as fuel in the body. Health professionals also advise frequent testing of ammonia levels throughout the person’s lifetime so that any imbalance can be addressed at mild levels itself. Additionally, a long-term treatment plan for addressing UCD typically involves the following:

  • Amino acid supplements
  • Medicines for removal of extra nitrogen in the body
  • A high calorie, low protein diet
  • Consumption of plenty of water

Liver transplantation is recommended by the doctor, depending on the severity of the disease.

There is no absolute cure for this disease, but the treatment, when followed strictly, gives effective results. Also, it is essential that the person lives a stress-free life and follows the prescribed diet else it might lead to repeated swelling of the brain, which can ultimately lead to irreversible damage to the brain. However, if the restrictions are followed diligently, the person can lead a completely healthy life. Therefore, the disorder must be diagnosed at the earliest, which calls for vigilance and action from the parents’ end as the disease is more prevalent among young children.