Symptoms Of Urea Cycle Disorder: Cause, Diagnosis & Treatment

Urea cycle disorder is a rare genetic disease that is present since birth of the child. In this disorder the body is not able to breakdown waste generated after protein gets digested. Foods such as meat, dairy products, fish, pulses etc that we eat gets broken down into protein and various other nutrients. Protein gets metabolized into amino acids. Amino acids are considered as building blocks for the body. They play important role in repair of tissues and development of the body.

During the metabolic process of amino acid, nitrogen is generated as a waste product.

With the help of liver enzyme it is converted into urea and is removed out of the body through urine. This complete process of conversion is called urea cycle.

In a person having urea cycle disorder, the essential enzyme produced by liver is missing that converts nitrogen into urea. As a result there is build up of ammonia a toxic substance. A high amount of ammonia which left untreated can lead to brain damage and coma. At present treatment is only protein restricted diet for lifetime.

What Is The Cause Urea Cycle Disorder?

Urea cycle disorder is a rare condition.

Approximately 1 out of 30000 newborns are born with this disorder. It is a genetic disease. This means the child is born with the deficiency of certain liver enzymes. Liver secretes several types of enzymes that are involved in metabolism of protein. The disorder is named after the missing enzyme.

OTC (ornithine transcarbamylase) deficiency is the most common deficiency accounting for at least 50 percent of urea cycle disorder. Other enzyme deficiency can be ASD, AG, ALD, CPS, NAGS. Since the disease is hereditary, parents pass this disorder to their children through defective gene. Usually urea cycle disorder occurs when the child inherits defective gene from both the parents.

Signs And Symptoms Of Urea Cycle Disorder

The symptoms may vary according to the type of deficient enzyme in urea cycle disorder. The disorder is usually diagnosed during the infancy period of the child. But if the disorder of mild variety the symptoms may develop in early or late childhood. In severe cases of urea cycle disorder where the enzyme is completely absent, symptoms manifest within 24 hours after birth.

These symptoms include the baby being fussy, sleepy, and sluggish. Low body temperature, vomiting, seizures, rapid breathing and finally coma are some other serious symptoms in severe cases of urea cycle disorder. In case of mild urea cycle disorder, the symptoms may not develop for months and years. When present the symptoms of mild variety include nausea and vomiting, dislike for high protein food, lack of appetite, hyperactive child, mental confusion, delusion, psychosis etc.

Diagnosis And Treatment Of Urea Cycle Disorder

Diagnosis of urea cycle disorder is made by urine and blood analysis. Blood examination will reveal high level of ammonia in blood. In some cases liver biopsy is made to find the enzymatic activity. Other test that can reveal urea cycle disorder is through genetic testing. MRI and CT scan of brain may identify if there is swelling in the brain that is likely because of high level of ammonia in blood.

Treatment of urea cycle disorder is for life long. Although there is no cure for the condition, the symptoms can be managed effectively. Patient may need to do blood test for ammonia frequently. Treatment involves multiple faculties. It includes a pediatrician, a dietician, and a geneticist.

Patient must avoid too much of protein in his food. Hence patient must eat more of vegetables, fruits and starch products that will provide the needed energy. Since protein is needed for overall growth of the child, the dietician will monitor the amount of restriction of protein.

Some children may need to take medicine to flush out excess amount of ammonia from the body. These medicines bind the ammonia and carry it out through urine. In severe cases liver transplant can be effective for urea cycle disorder.