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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.

Urea cycle disorders are viewed as rare and primarily pediatric conditions, but there might be a whole range of unrecognized, genetically determined problems with protein metabolism experienced by adults. Some people may have mild mutations that compromise a gene’s function and cause slight symptoms. This may explain why one person eschews meat while another loves nothing more than a steak meal. Defects in protein metabolism may also explain why some people have bad reactions to high-protein diets like the Atkins diet. 

The Harvard Health Letter notes that someday genetic tests might be used routinely to diagnose such metabolic disorders, but for now much more research is needed.

Also in this issue:

• Open-fit hearing aids
• Is fructose unhealthy?
• Standard versus digital mammograms
• Atkins wins with weight loss
• By the way doctor: Can exercise and diet cure diabetes? Does asthma go away?

BOSTON — For many men with early-stage prostate cancer, sorting out the treatment options can be overwhelming. Yet they feel pressured to choose a course of therapy quickly. The first issue of a new quarterly bulletin about prostate disease published by Harvard Medical School says that the most important thing to do is to take your time and make sure you explore all treatment choices thoroughly. 

The inaugural issue of Perspectives on Prostate Disease explains that treatment decisions can be complicated for a number of reasons. First, there’s no one-size-fits-all treatment for early-stage prostate cancer. Even the experts do not agree about which men with such cancers should be treated, which therapy is best — or whether, for some tumors, treatment is even necessary. Indeed, doctors are now advising many patients to undertake a program of “active surveillance” rather than pursue aggressive treatment. The choice can become even more difficult when a man takes into account the side effects of treatment, which can be devastating to his quality of life.

Marc B. Garnick, M.D., Harvard oncologist and editor-in-chief of Perspectives,says, “For all these reasons, I encourage patients to ask detailed questions and perform due diligence to ensure that they are making the right decisions about their medical care. Due diligence begins with having the confidence to question your physician about treatment recommendations — after all, you are the person who has to live with the results.”

Garnick recommends men also consider these questions:

• Will you be able to deal with impotence if it occurs? What about incontinence?
• How will the possible side effects of treatment affect your relationship with your partner—and your sense of self?

It’s vital to think about these issues carefully: Studies show that 30% to 70% of men treated with surgery or radiation therapy experience impotence, and at least 1% to 2% experience urinary incontinence—and some experts think the true numbers are much higher. According to Garnick, truly informed patients are much better able to deal with adverse consequences than patients who don’t have the all the facts, or who rush into making a decision.

Also covered in the 48-page first issue of this quarterly bulletin:

• When to consider active surveillance
• A patient’s story: Why one man opted for lifestyle changes instead of treatment
• A patient’s story: Why one man chose robotic-assisted laparoscopic prostatectomy
• Medication for benign prostatic hyperplasia: When to consider a change
• Harvard experts discuss drug treatments for benign prostatic hyperplasia
• A guide to finding the studies cited in the newsletter, so you can evaluate the evidence for yourself.

In each issue of Perspectives on Prostate Disease, you’ll find:

• Roundtable discussions: Join a group of Harvard physicians as they debate key issues in the diagnosis and treatment of prostate disease.
• Patient interviews: Benefit from the shared experiences of men who have confronted prostate disease.
• Prostate disease news and research findings: Be among the first to know about breakthroughs you won’t hear about on the news.