• Other Urea Cycle Disorder Websites

• Links to info on seizures, including rare causes.

• Places to search for information

• Autism Society of America

• A nonfiction novel about our child's UCD.

• Book excerpt

• Et cetera, cool links that don't fit anywhere else.

Every Child Deserves

A Chance

What?

A Urea Cycle disorder is an inherited genetic defect. Normally, the liver supplies six enzymes to metabolize the protein that we eat. In these disorders, the liver fails to produce all of the enzymes necessary to metabolize protein. Instead, one of the enzymes is either partially produced, or not produced at all. The protein then builds up in the bloodstream as ammonia, causing irreversible brain damage, coma, and eventually death.

Who?

Urea cycle disorders (UCD) are estimated to affect 1 in every 25,000 births. This means that every year there should be about 155 new cases of UCD's. There are only about 200 people alive and receiving treatment. Though treatment is available, if undiagnosed these children die.

When?

Most children affected by a UCD begin to show symptoms at birth, however many are "late-onset" and present symptoms in early childhood. There are even documented cases of adults becoming symptomatic after a traumatic event, such as childbirth.

Symptoms...

In infancy, the first symptoms will develop within the first 24-72 hours after feeding. The baby will become excessively sleepy, "floppy", and may have seizures. There will be persistent vomiting, poor feeding, and an enlarged liver. All symptoms may not be present.

In older children, there will be seizures, hyperactivity, confusion, persistent vomiting, and an enlarged liver. The child may also refuse to eat meat or products with high protein content (including milk, cheese, peanuts, etc.). Again, all symptoms may not be present.

In our son, old scars would redden and become irritated, his skin would itch, and he would have episodes of confusion. During this time he would have clusters of seizures that could not be controlled by any combination of anticonvulsants. His personality would change before a "spell". His eyes would develop a grayish, "cloudy" look, most noticeable in the white part. The pupils were also abnormally dilated, even in a well-lit room. Though these are unconfirmed symptoms, these were noted with each episode of elevated ammonia.

Diagnosis...

Screening for these disorders is done by checking a blood ammonia level and amino acid levels. The diagnosis is usually confirmed by liver biopsy. There are also specific tests for each type of UCD.

Prognosis.

If undiagnosed, there is a 100% mortality rate. When diagnosed, the prognosis is fair. The prognosis improves the earlier the disorder is discovered. Each day that the child is untreated increases the retardation, developmental delays, and other neurological deficits that will be incurred.

Treatment!

There are three steps to treating a child with a UCD.

• Reduce the amount of protein the child consumes.

• Give medication to take extra ammonia out of the body.

• Add arginine or citrulline (according to the specific UCD being treated) to help the body use protein.

Awareness!!!

Unless these disorders are discovered, they can't be treated. Raising awareness about UCD's will keep new cases from being overlooked. If a physician knows what to look for, he can find it.

For more information on Urea Cycle Disorders, go to our links.

Every child deserves a chance.

This page is for reference purposes only. If you feel you or your child has these symptoms, consult your physician. Ask for a referral to a geneticist for further evaluation.