Recent Blog Articles
Does cannabis actually relieve pain — or is something else going on?
Jump-start a healthier New Year with four holiday eating tips
Sibling rivalry is normal — but is it helpful or harmful?
Prostate cancer: How long should hormonal therapy last?
Overeating? Mindfulness exercises may help
Genes protective during the Black Death may now be increasing autoimmune disorders
Does weight loss surgery relieve pain?
Have you done your crossword puzzle today?
Concerned about your child’s development?
Why all the buzz about inflammation — and just how bad is...
Urea cycle disorder and protein metabolism
BOSTON — Protein metabolism presents some serious waste management challenges for the body. When protein is broken down, one of the by-products is ammonia. Ammonia is toxic, so our bodies have elaborate systems for getting rid of it. Most of the detoxifying work falls to our liver. There, ammonia travels a multistep pathway featuring five enzymes that turn it into urea, to be excreted in urine. People with rare genetic deficits that interfere with the urea cycle often die in childhood. Other mutations, though, may be responsible for some problems in adults, reports the May 2007 issue of the Harvard Health Letter.
One in 8,000 American children has a genetic defect that causes one or more of the enzymes involved in ammonia processing to be defective or scarce. As these children start to consume protein, the ammonia begins to pile up. Treatment includes protein restriction, medications that sop up extra ammonia, dialysis, and possibly liver transplant. The death rate is high.
To continue reading this article, you must log in.
Subscribe to Harvard Health Online for immediate access to health news and information from Harvard Medical School.
- Research health conditions
- Check your symptoms
- Prepare for a doctor's visit or test
- Find the best treatments and procedures for you
- Explore options for better nutrition and exercise
I'd like to receive access to Harvard Health Online for only $4.99 a month.Sign Me Up
Already a member? Login ».
As a service to our readers, Harvard Health Publishing provides access to our library of archived content. Please note the date of last review or update on all articles.
No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.
Free Healthbeat Signup
Get the latest in health news delivered to your inbox!