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Hereditary urea cycle abnormality

Alternative Names:

Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality

Treatment:

The mainstay of treatment of these disorders is PROTEIN RESTRICTION. As protein is the source of nitrogen-containing chemicals in the diet, limiting protein will limit the amount of nitrogen-wastes.

This reduces the stress on the hampered urea cycle. It is imperative that protein restriction be done with guidance from a health care professional who can make certain to balance the amount of protein needed for growth with that which will cause symptoms.

It is extremely important for people with these disorders to AVOID FASTING.

Patients with urea cycle abnormalities must also be very careful under times of stress, such as infections. Stress, such as fever, can cause the body to break down its own proteins and exceed the capacity of the abnormal urea cycle to dispose of the by-products.

A sick-day plan should be formulated with your doctor to avoid all protein, consume high carbohydrate drinks, and stay hydrated.

Most patients with urea cycle disorders require hospitalization at some point. During such times, they may be treated with medicines that help the body dispose of nitrogen-containing wastes. Dialysis may be required to help rid the body of excess ammonia during extreme illness.

Support Groups:

NATIONAL UREA CYCLE DISORDERS FOUNDATION

4841 Hill Street; La Canada, CA 91011

Phone: 818-790-2460

Toll-Free: 1-800-38-NUCDF

www.nucdf.org

Expectations (prognosis):

The outcome depends on which of the urea cycle abnormalities a person has, how severe it is, how early it is discovered, and how closely the protein-restricted diet is followed. Babies diagnosed in the first week of life and immediately placed on a protein-restricted diet do well.

Continued adherence to the diet can lead to normal adult intelligence. Repeated episodes of not following the diet or stress-induced symptoms can lead to repeated brain swelling and irreversible brain damage.

It should be expected that major stresses, such as surgery or accidents, can be complicated for these patients. Extreme care is required to avoid problems during such periods.

Complications:

Calling your health care provider:

If your child has a test that shows increased ammonia in the blood, request an evaluation by a biochemical geneticist or metabolic specialist. If there is a family history of urea cycle disorder, seek genetic counseling during family planning. A dietician is instrumental in planning and updating a protein-restricted diet as a child grows.

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