UREA CYCLE DISORDERS

The age of onset and symptoms vary on the type of UCD. This issue is usually diagnosed in infants, yet some children don’t exhibit symptoms until later.

In children with serious UCD, the signs will manifest in the first 24 hours of life. While all these signs may not be present, the baby will end up irritable or weak and will have various medical problems, including vomiting and poor feeding. Seizures, difficulty in breathing and stupor may appear later.

Symptoms in children with mild or moderate UCD, who don’t show signs until early childhood, may include:

• Disliking meat or various foods that are rich in protein
• Nausea and vomiting
• Hyperactivity or confusion
• Fatigue and drowsiness
• Coma

DIAGNOSIS

The finding is made by examination of the urine and blood for various metabolites and elevated ammonia levels.

A liver biopsy should be done to show low enzyme activity levels.

An MRI or CT scan may be done to check whether there is swelling of the brain by the ammonia in the blood.

TREATMENT

The child’s treatment will include:

Low protein diet with high calories. The protein showed be lowered by avoiding high-protein foods.

Medicines. These can help expel extra ammonia from the body.

Amino acid supplements. Dependent on the kind of UCD, amino acid supplements like arginine or citrulline may be added to the diet to help give the body what it needs to make proteins that are important for growth and development since children with urea cycle disorders can’t make arginine in their bodies.

Liver transplantation. Since the formation of urea cycle proteins occurs in the liver, a liver transplant can be a suitable treatment for urea cycle disorders.