How Is Urea Cycle Disorder Diagnosed? Are Kids More Prone To It?

Urea cycle disorder is a genetic disease that occurs in young children. In this disease, the child often has difficulty in passing urine and faeces.

Tavishi Dogra
Written by: Tavishi DograPublished at: May 21, 2020
How Is Urea Cycle Disorder Diagnosed? Are Kids More Prone To It?

Urea cycle disorders diagnosis pathophysiology and therapy: Urea cycle disorder (UCDs) is a group of diseases, often found in young children. Usually, in this disease, the child has problems related to faeces and urine. One of the symptoms of this disease is the lack of proper excretion for the child or stomach upset for a long time. Every human has an excretion cycle (that comes out in the form of urine). In the same way, a similar period begins to develop in children even after birth. Under this disease, when your child eats protein, his body converts it into amino acids and the rest into nitrogen products, which they remove as faeces or excretions. In this process, the liver supplies several enzymes to convert nitrogen into urea, which is then released to the body in the form of faecal-urine, and its entire process is called the 'urea cycle'.

How does this disease happen in children?

If your child has urea cycle disorder, his liver does not work according to the urea needs. In this way, when the child's body cannot extract nitrogen, ammonia, etc., its harmful substance gets mixed in the blood. These hazardous substances can then cause brain damage due to circulation with the blood, which can cause your kid to go into a coma. If you do not treat it quickly, it can be fatal for your child. Therefore, you must pay attention to your child's urine cycle since birth.

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Causes of Urea Cycle Disorder

  • Deficiency of some enzymes such as OTC (ornithine transcarbamylase), ASD (argininosuccinic acid synthetase) and ALD (argininosuccinase acid leases) in the body
  • Due to transfer of deficient genes from parents to the child
  • Reasons behind consuming more protein
  • Due to liver damage in the child
Let us tell you what the signs and symptoms of this disease are?

Symptoms of Urea Cycle Disorder

In children with severe UCD, its symptoms develop within the first 24 hours of life. However, all these symptoms may not be present simultaneously. In this, the cycle of passing urine in children is spoiled. Then they see problems like sleep, irritability, vomiting on feeding. Besides, children with mild or moderate UCD may show some other symptoms. Such as-

  • Dislikes (or does not eat) fish and other protein-rich foods
  • Vomiting, nausea
  • Mental confusion or hyperactive behaviour
  • Often tired or sleeping
  • Syncope

Treatment of urea cycle disorder


  • Give the child a low-protein, high-calorie diet — the protein in the diet reduces urea cycle disorder by avoiding protein-rich foods. For this, give fruits and vegetables in some form to the child from 6 months onwards.
  • Contact the paediatrician about the child's diet as it will allow them to eat nutritious food right from the beginning.
  • Some children need to take medication to help digest excess ammonia from the body. For this, take the child to the doctor.
  • If the child has problems related to frequent bowel and urine drainage, he may have an unhealthy liver. In such a situation, a liver transplant can be done if there it causes too much trouble.

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