{"id":51,"date":"2023-11-06T10:45:02","date_gmt":"2023-11-06T10:45:02","guid":{"rendered":"https:\/\/liveunlimitedpku-dev-001.azurewebsites.net\/en-gb\/liveunlimited\/?page_id=51"},"modified":"2025-07-31T09:27:54","modified_gmt":"2025-07-31T09:27:54","slug":"what-is-pku","status":"publish","type":"page","link":"https:\/\/pku.biomarin.com\/en-gb\/liveunlimited\/what-is-pku\/","title":{"rendered":"What is PKU?"},"content":{"rendered":"
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\n\t\t\t \t\t\t\t Life is complicated when you don’t have the tools you need<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t

WHAT IS PKU?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t

Only 1 in 10 people surveyed are aware of PKU!12<\/sup><\/p>\n

Phenylketonuria (PKU) is a rare, lifelong metabolic condition which limits a person\u2019s ability to break down protein, which may lead to cumulative toxic effects on the brain1<\/sup>.<\/p>\n

With PKU, the food you eat directly impact the way your brain functions.<\/p>\n\t\t\t\t\t\t\t\t\n

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People with PKU have a problem with the phenylalanine hydroxylase (PAH) enzyme, and so can\u2019t fully break down an amino acid called Phenylalanine (Phe), which is found in all protein-containing foods (e.g. nuts, meat, eggs, dairy) and sweeteners such as aspartame1<\/sup>.<\/p>\n

If too much protein is consumed, high levels of Phe build-up in a person\u2019s blood and disrupt the balance of neurotransmitters \u2013 or even cause physical damage to the brain itself. This can result in neurological symptoms such as problems with memory and attention, depression and anxiety2<\/sup>.<\/p>\n <\/div>\n \t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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The condition is screened for during the new-born heel prick test, and affects around 1 in 10,000 people in Europe1,3<\/sup><\/h2>\n <\/div>\n \n
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PKU is an inherited autosomal recessive disease. This means that if both parents are carriers of the defective PKU gene, their baby has a 1 in 4 chance of suffering from PKU4<\/sup>. The condition is tested for in almost all European countries during the new born heel prick test, but general awareness of the condition remains low.<\/h3>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n
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There is currently no cure for PKU, and management should be lifelong.<\/h2>\n

Until fairly recently, doctors thought that PKU was a condition that was outgrown once the brain fully developed as a teenager. However, we now know that high blood Phe levels continue to result in damage at any age, and so the condition should be managed for life5<\/sup>.<\/p>\n

A heavily restricted diet and\/or medical treatment is needed to keep Phe levels under control, but can place a huge burden on adults \u2013 impacting quality of life, personal relationships, and contributing to anxiety, stress and depression6,7<\/sup>.<\/p>\n <\/div>\n \n

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You can find out more about PKU in children, teens and adults by clicking the links below<\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t

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Children
\ndiagnosed with PKU\n<\/h4>\n \n \n <\/div>\n
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I am a parent of a child with PKU <\/a><\/p>\n <\/div>\n<\/div>\n\n

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Teens and young adults
\ngrowing up with PKU\n<\/h4>\n \n \n <\/div>\n
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I am a teen with PKU <\/a><\/p>\n <\/div>\n<\/div>\n\n

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Adults
\nliving with PKU\n<\/h4>\n \n \n <\/div>\n
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I am an adult with PKU<\/a><\/p>\n <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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The impact of untreated or poorly managed PKU can be severe<\/h2>\n <\/div>\n \n
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High or unstable blood Phe levels can lead to8,9<\/sup>:<\/p>\n