Skip to content
My WebMD Sign In, Sign Up

Health & Parenting

Font Size
A
A
A

National Standards Issued for Diagnosing, Treating PKU


WebMD Health News

Oct. 18, 2000 (Washington) -- Almost 40 years after the U.S. began screening all newborns for phenylketonuria (PKU), a panel of experts has issued the nation's first consensus standards for how to diagnose and treat this metabolic disorder, which, if left untreated, can lead to profound mental retardation.

PKU is a rare, inherited disorder associated with a deficiency of a liver enzyme. This deficiency leads to the accumulation of an amino acid called phenylalanine in the blood and tissues. That can result in brain damage early in childhood that continues into adulthood, usually resulting in mental retardation. Treatment requires avoiding foods with this amino acid, which is a building block of proteins.

The standards released Wednesday were developed by an independent panel of experts assigned by the National Institutes of Health to resolve questions about the diagnosis and treatment of this disorder. Although the research on PKU continues to broaden, its treatment and diagnosis now varies from state to state and physician to physician, due mostly to the lack of clear-cut policies.

For instance, while some states offer follow-up services such as counseling to the families of those with the disorder, others do not offer the social services families may need to address the school, family, and behavioral difficulties that can accompany PKU. And while some doctors recommend ending treatment after childhood, others say it should continue throughout the patient's lifetime.

Among the panel's recommendations were that treatment be lifelong and that pediatricians caring for children with PKU adopt a multidisciplinary approach that includes encouraging family counseling. The panel also recommended that states develop policies to help these families get the medical services they need and to ensure that appropriate screening, treatment, and data collection are taking place.

Despite the panel's efforts to include caveats, such as the need for further research into the causes and mechanisms of PKU, not everyone supports its recommendations.

"You have got to remember that there is such a thing as junk science," says Samuel Bessman, MD, chair of pharmacology and professor of pediatrics at the University of Southern California School of Medicine.

According to Bessman, the panel's recommendations largely ignore the fact that some patients with PKU never develop mental retardation. They also ignore the fact that treatment of PKU can itself have harmful effects, and that the most commonly used diagnostic test for PKU is not 100% accurate, he says.

"My fear is that they are making suggestions based on numbers that are not wholly accurate," he tells WebMD.

The current treatment for PKU involves putting patients on a diet that excludes all high-protein foods, such as milk, eggs, and nuts. The reason is that all protein contains phenylalanine. When a strict diet is begun early and phenylalaline levels are controlled, experts believe that children with PKU can develop normally.

1 | 2 | 3

Today on WebMD

family walking on the beach
Slideshow
two boys in a swing
Article
 
mistakes_parents_make_with_toddlers_2.jpg
Article
woman with cleaning products
Slideshow
 
mother and daughter talking
Tool
child brushing his teeth
Slideshow
 
Sipping hot tea
Slideshow
Young woman holding lip at dentists office
Video
 
6-Week Challenges
Want to know more?
Build a Fitter Family Challenge – Get your crew motivated to move.
Feed Your Family Better Challenge - Tips and tricks to healthy up your diet.
Sleep Better Challenge - Snooze clues for the whole family.
I have read and agreed to WebMD's Privacy Policy.
Enter cell phone number
- -
Entering your cell phone number and pressing submit indicates you agree to receive text messages from WebMD related to this challenge. WebMD is utilizing a 3rd party vendor, CellTrust, to provide the messages. You can opt out at any time.
Standard text rates apply
Which Vaccines Do Adults Need
Article
rl with friends
fitSlideshow
 
tissue box
Quiz
Child with adhd
Slideshow