Healthdirect Free Australian health advice you can count on.

Medical problem? Call 1800 022 222. If you need urgent medical help, call triple zero immediately

healthdirect Australia is a free service where you can talk to a nurse or doctor who can help you know what to do.

beginning of content


Phenylketonuria (PKU) is an inherited disorder that increases levels of an amino acid (a building block for proteins) in the blood called phenylalanine. Phenylalanine is a normal part of a healthy diet, and is found in protein as well as some artificial sweeteners.

In PKU, phenylalanyl can build up to harmful levels. causing cell changes inside the brain which can lead to intellectual disability.

Fortunately, through routine newborn screening, almost all affected babies are now diagnosed and treated early, allowing them to grow up with normal intelligence. Infants with PKU are commenced on a low protein (phenylalanine) diet which should be followed for life.

Follow the links below to find trusted information about phenylketonuria.

Last reviewed: August 2016

Need more information?

These trusted information partners have more on this topic.

Found 65 results

Phenylketonuria (PKU) - Better Health Channel

PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods.

Read more on Better Health Channel website

Newborn screening tests -

Newborn screening tests can detect rare but serious genetic or metabolic disorders in newborn babies.

Read more on myDr website

Kuvan Soluble tablets -

Kuvan Soluble tablets - Consumer Medicines Information leaflets of prescription and over-the-counter medicines

Read more on myDr – Consumer Medicine Information website

Parenting and Child Health - Health Topics - Neonatal screening test

Babies born in Australia have a blood test taken when they areabout 48 hours old. This test is the Neonatal Screening Test, sometimes called the 'Guthrie' test, or 'heel prick' test. The test can tell if a baby has one of many rare but serious health problems before any harm is done and even before there are signs that there is a health problem.

Read more on Women's and Children's Health Network website

Phenylalanine - BluePages

Find out if phenylalanine is likely to help.

Read more on e-hub Web Services - Australian National University (ANU) website

Special diets for kids

Special diets for kids may be due to metabolic conditions, allergies or your beliefs. Here are tips on how to give your child the nutrients they need.

Read more on Pregnancy, Birth & Baby website

Neonatal screening test

Information on neonatal newborn screening test (also known as heel prick test) including how it is done, what is screened for, plus links to trusted resources.

Read more on Pregnancy, Birth & Baby website

Isentress Tablets -

Isentress Tablets - Consumer Medicines Information leaflets of prescription and over-the-counter medicines

Read more on myDr – Consumer Medicine Information website

Your baby after the birth

Information on your baby's needs after birth including vitamin K, hearing screening, heel prick test, the fontanelle, plus links to trusted resources.

Read more on Pregnancy, Birth & Baby website

Clinical genetic testing - Lab Tests Online AU

Clinical genetic testing refers to the laboratory analysis of DNA or RNA to aid in the diagnosis of disease. Genetic testing can provide definitive diagnosis as well as help predict the likelihood of developing a particular disease before symptoms even appear. It can tell if a person is carrying a specific gene that could be passed on to his or her children and sometimes it can give information as to whether some treatments will work before a patient starts therapy. These are definite advantages. However, there are also some issues in genetic testing that should be carefully thought out and discussed with a genetic counsellor or clinical geneticist before undergoing any testing. These aspects are reviewed in the section titled Pros and cons of genetic testing. In an era of patient responsibility, it is important that both health professionals and patients are educated in these matters to fully appreciate the value as well as the drawbacks of genetic testing.

Read more on Lab Tests Online website

Check your symptoms Find a health service

Healthdirect 24hr 7 days a week hotline

24 hour health advice and information you can count on

1800 022 222

Government Accredited with over 140 information partners

We are a government-funded service, providing quality, approved health information

Australian Government, health department logo ACT Government logo New South Wales government, health department logo Northen Territory Government logo Government of South Australia, health department logo Tasmanian government logo Government of Western Australia, health department logo