Hereditary urea cycle abnormality

Alternative Names

Treatment

Limiting protein in the diet can help treat these disorders by reducing the amount of nitrogen wastes the body produces. Special low-protein infant and toddler formulas are available.

It is important that a health care provider guide protein intake. The health care provider can balance the amount of protein so that the baby has enough to grow, but not enough to cause symptoms.

It is extremely important for people with these disorders to avoid fasting.

People with urea cycle abnormalities must also be very careful under times of stress, such as when they have infections. Stress, such as a fever, can cause the body to break down its own proteins. These extra proteins can make it difficult for the abnormal urea cycle to remove the byproducts.

Develop a plan with your doctor for when you are sick to avoid all protein, drink high carbohydrate drinks, and get enough fluids.

Most patients with urea cycle disorders will need to stay in the hospital at some point. During such times, they may be treated with medicines that help the body remove nitrogen-containing wastes. Dialysis may help rid the body of excess ammonia during extreme illness.

Support Groups

National Urea Cycle Disorders Forum -- www.nucdf.org

Outlook (Prognosis)

How well patients do depends on:

• Which urea cycle abnormality they have
• How severe it is
• How early it is discovered
• How closely they follow a protein-restricted diet

Babies diagnosed in the first week of life and put on a protein-restricted diet right away do well.

Sticking to the diet can lead to normal adult intelligence. Repeatedly not following the diet or having stress-induced symptoms can lead to brain swelling and brain damage.

Major stresses, such as surgery or accidents, can be complicated for these patients. Extreme care is needed to avoid problems during such periods.

Possible Complications

• Coma
• Confusion and eventually disorientation
• Death
• Increases in blood ammonia level
• Swelling of the brain

When to Contact a Medical Professional

If your child has a test that shows increased ammonia in the blood, have the child examined by a genetic or metabolic specialist. If there is a family history of urea cycle disorder, seek genetic counseling before trying to get pregnant.

A dietician is important to help plan and update a protein-restricted diet as the child grows.