What is PKU?
PKU (Phenylketonuria) is a rare inherited metabolic disorder that, if left untreated, can lead to severe and irreversible brain damage. Early diagnosis and strict dietary management are essential for living a healthy, full life with PKU
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Understanding Life with Phenylketonuria
PKU Association Of Ireland
Phenylketonuria, or PKU, is a rare genetic disorder that affects a person’s metabolism. If untreated, PKU results in permanent brain damage. Screening for PKU takes place for all newborn babies in the Republic of Ireland, and across the UK and Europe. In Ireland approximately 1 in every 4,500 babies is diagnosed with PKU – a relatively high incidence rate, compared to the UK where it is believed to be closer to 1 in every 12,000 babies.
People with PKU are unable to break down an amino acid called phenylalanine (phe). This is a natural substance found in food; a building block of protein, but in people with PKU, phe builds up in the blood and in the brain and can cause serious problems.
While there is no cure for PKU, there is a way to prevent the build up of phe in the blood and brain. This involves a very challenging, highly restricted, low protein diet.
Children and adults with PKU also need to take regular dietary supplements that contain essential amino acids, vitamins and minerals, while keeping the blood phe level within a specific target range.
A PKU child’s phe level is measured regularly by blood tests that are sent to the Children’s University Hospital at Temple Street. Once analyzed, dietitians at The National Centre for Inherited Metabolic Disorders will inform the person/s (or parents) how to manage their medical nutritional therapy in the following period.
Adults with PKU should also undertake regular blood testing to ensure they avoid any symptoms associated with high blood phe levels.
People with PKU are unable to break down an amino acid called phenylalanine (phe). This is a natural substance found in food; a building block of protein, but in people with PKU, phe builds up in the blood and in the brain and can cause serious problems.
While there is no cure for PKU, there is a way to prevent the build up of phe in the blood and brain. This involves a very challenging, highly restricted, low protein diet.
Children and adults with PKU also need to take regular dietary supplements that contain essential amino acids, vitamins and minerals, while keeping the blood phe level within a specific target range.
A PKU child’s phe level is measured regularly by blood tests that are sent to the Children’s University Hospital at Temple Street. Once analyzed, dietitians at The National Centre for Inherited Metabolic Disorders will inform the person/s (or parents) how to manage their medical nutritional therapy in the following period.
Adults with PKU should also undertake regular blood testing to ensure they avoid any symptoms associated with high blood phe levels.
Living with PKU — The Essentials
Genetic Condition
PKU is inherited and present from birth.
Newborn Screening
All babies in Ireland are tested shortly after birth.
Cannot Process Phenylalanine
Phe builds up in the blood and brain, causing damage.
Strict Low-Protein Diet
Essential to manage phe levels and avoid symptoms.
Daily Protein Supplements
Special medical formulas supply needed nutrients.
Regular Blood Testing
Ensures phe stays within a safe range.
Importance Of Treatment
High phe levels can cause intellectual and neurological damage.
No Cure, but Manageable
With lifelong dietary care and support, people with PKU can thrive.
The impact of PKU
PKU Association Of Ireland
Living with PKU is a constant daily challenge. Since the natural progression of PKU is so severe, a person (and/or their carers) must take their condition seriously.
The PKU low-protein diet has been a major success. It has prevented generations of people from developing acute mental and physical disabilities as a result of their condition. However, it is a punishing and sometimes very difficult diet to stick to, can severely affect a person’s quality of life and can have long-term health consequences.
The PKU low-protein diet has been a major success. It has prevented generations of people from developing acute mental and physical disabilities as a result of their condition. However, it is a punishing and sometimes very difficult diet to stick to, can severely affect a person’s quality of life and can have long-term health consequences.
The PKU diet is expensive.
For example, a low protein bread supplement is at least 4 times the cost of a normal loaf of bread.
The life-long low protein PKU diet is very restrictive.
The diet means food like meat, fish, poultry, cheese, milk, bread, chips, pasta, yoghurt, chocolate – things we all take for granted, are things both children and adults with PKU either can not have or can only have in very small measured quantities.
The PKU diet requires taking daily protein supplements in the form of tablets or a drink.
Many children struggle with their protein drink due to its taste and side effects.
PKU can have a lasting impact on health with widespread physical, emotional and behavioural consequences.
Some PKU people will find their diet leaves them hungry, unsatisfied and poorly nourished.
With such a restricted diet, people are believed to be at higher risk of suffering from attention deficit disorders, poor concentration and low energy levels. These in turn can affect performance at school or work.
The diet may also be associated with an increased risk of obesity. Much more research is needed in this area, but it is clear that effective PKU management includes monitoring nutritional status and preventing obesity.
In the longer term, it is believed that even amongst those who have maintained a strict PKU diet, there may be significant health impacts such as neurocognitive deficits or neurological side effects.
With such a restricted diet, people are believed to be at higher risk of suffering from attention deficit disorders, poor concentration and low energy levels. These in turn can affect performance at school or work.
The diet may also be associated with an increased risk of obesity. Much more research is needed in this area, but it is clear that effective PKU management includes monitoring nutritional status and preventing obesity.
In the longer term, it is believed that even amongst those who have maintained a strict PKU diet, there may be significant health impacts such as neurocognitive deficits or neurological side effects.
Your Donation Can Change a Life
Every day, families affected by PKU face overwhelming emotional, physical, and financial challenges. From costly medical food to ongoing testing and specialist care, managing PKU is a lifelong commitment. Your support helps us:
Provide vital resources to families in need
Fund education and awareness campaigns
Advocate for better access to treatment and care
Support groundbreaking research into new therapies
