International Phenylketonuria Awareness Day

Phenylketonuria (PKU) is an inherited, autosomal recessive condition that was first described by Dr.Ivar Asbjørn Følling in 1934 1. Patients with PKU have problems processing phenylalanine, an essential amino acid (protein building block) found in almost all foods. Raised phenylalanine levels can cause severe brain damage and other neurological, behavioral, cognitive, physical and dermatological problems 2,3.

PKU occurs in 1 in 10,000 to 1 in 15,000 newborns in the United States and in 1 in 10,000 in Europe 2,4. The occurrence varies among geographic regions and ethnic groups, and is rarely seen in African Americans and Ashkenazi Jews 5.

Symptoms vary depending on the severity of the condition, which depends on the levels of phenylalanine hydroxylase (PAH), the enzyme that normally converts phenylalanine to other forms, in the body. Classic PKU – the most severe form of the condition – results when PAH is completely missing, and mild or moderate forms of PKU occur when PAH levels are reduced. Signs and symptoms of PKU include musty odor in breath, skin or urine due to excess amount of phenylalanine, microcephaly, hyperactivity, delayed development and skin rashes. Raised phenylalanine levels cause destruction of myelin, the protective layer of nerves in the brain, resulting in neurological problems like seizures, behavioral, physical and intellectual problems 3,5,6. As phenylalanine is normally converted into melanin, dopamine and serotonin, PKU patients may have fair skin and blue eyes, and experience depression and emotional distress 5.

Treatment of PKU consists of maintaining phenylalanine levels within normal range through a controlled, specialized diet that must be followed throughout the patient’s life otherwise symptoms can appear. Phenylalanine is necessary for the organism to survive and function properly, and monitoring phenylalanine intake should be done cautiously. The PKU diet was created by Horst Bickel, Evelyn Hickmans and John Gerrard in the early 1950’s and contains foods low in protein7. These are safe to eat in limited quantities, and include most fruits and vegetables, some cereals and other low-protein foods. Protein-rich foods, like dairy, meat, nuts, bread, pasta and artificial sweeteners can cause a dangerous buildup of phenylalanine and should be avoided. Certain vitamins, supplements and medications should also be checked for their contents. Supplements that can block absorption of phenylalanine, and a Food and Drug Administration (FDA)-approved drug, sapropterin, are available but they do not work for everyone, and should always be taken in addition to the PKU diet 3. As long as the PKU diet is followed, people with PKU can have healthy, normal lives. Women with PKU that follow the diet before and during pregnancy have normal pregnancies 3.

PKU can be detected through newborn screening which is performed in many countries worldwide during the baby’s first days of life. Testing is easily administered by collecting a few drops of blood usually from the baby’s heel, and if results are positive, further confirmatory tests are performed. Identifying PKU as early as possible is critical for the baby’s development, as babies with PKU don’t initially show symptoms, and PKU is only noticed when brain damage has already occurred. PKU can also be screened during pregnancy by non-invasive prenatal tests (NIPT), and confirmed through invasive procedures, like amniocentesis or chorionic villus sampling (CVS). As it is an autosomal recessive condition, parents may be carriers without their knowledge, so early testing and detection can be beneficial in gathering necessary knowledge and being informed and prepared.

International PKU day is celebrated on June 28 since 2013. The day was chosen as it’s the birthday of Horst Bickel who helped create the PKU diet, and Robert Guthrie who developed the ‘Guthrie test’ in 1960. The ‘Guthrie test’ was the first form of newborn screening that was developed specifically for PKU. It became a state-mandated test in the US that slowly spread worldwide, and more disorders were added. With technological and scientific advancements, the Guthrie test developed into the foundation for the newborn screening tests that are offered today across the world. PKU, the first condition screened by newborn screening, is a great example of how early detection and management have an integral role in helping patients take informed decisions and live healthy lives.

The content of this blog is not intended to be taken as a substitute for professional medical advice. Always seek the advice of your healthcare provider regarding a medical condition.

The VERAgene NIPT can detect phenylketonuria, along with 49 other monogenic disorders, 8 aneuploidies and 4 microdeletions from the 10th week of pregnancy. To learn more please visit NIPT results, possible next steps and clinical management should always be fully discussed with your healthcare provider.


1) Robert Guthrie PKU (2019)

2) Genetics Home Reference (2019)

3) Mayo Clinic (2019)

4) Loever JG (2007) ‘Neonatal screening in Europe; the situation in 2004’. Journal of Inherited Metabolic Disease; 30(4): 430-438.

5) National Organization for Rare Disorders (2019)

6) OMIM (2019)

7) European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (2019)

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