Phenylketonuria (PKU) is a rare inherited metabolic disorder that affects about 1 in 10,000 babies born in the UK. People with PKU cannot breakdown the amino acid Phenylalanine. This is one of the building blocks that forms protein. The excess Phenylalanine then builds up in the blood and brain, affecting the brain’s function and creates a possibility of brain damage, if not treated.
PKU is mainly treated by adhering to a very low protein diet. This means, no high protein foods like meat, fish, dairy, nuts, beans or lentils. All other foods must be strictly measured and monitored. This very restrictive and complex diet must be monitored daily, for life; presenting a huge challenge to normal every day life.
In my blog, I aim to highlight and raise awareness of the battles that adults face living with this rare metabolic disorder. I want to achieve this while reaching out to the PKU community, to let individuals know they are not alone in a struggle that can isolate us from the world. The awareness of mental health is one that is forever in the limelight these days. It’s important to me that people understand that for adults with PKU, depression and anxiety is a key symptom they can battle with daily.
If you have a friend or relative with PKU who is often detached from the family, or your social group; then from my own experience living with PKU, you can be sure they are struggling to cope. They may very well need support or a friendly face/voice. Socialising can be particularly challenging to someone with PKU as it is often based around food and drink. Sometimes, despite feeling lonely, its easier to avoid social events rather than pretending to fit in.
For more information visit:
https://www.nhs.uk/conditions/phenylketonuria/
How is PKU Diagnosed?
Every baby is tested at birth for PKU. A heel prick test (Guthrie) is taken during the newborn screening process, which checks your baby for several conditions.
For more information visit:
https://www.nhs.uk/conditions/baby/newborn-screening/blood-spot-test/
How is PKU Treated?
As I mentioned above, PKU is treated with a very strict low protein diet and monitored, via blood spot tests, to track levels of Phe (Phenylalanine) in the bloodstream. The availability of a new drug called ‘Sapropterin’ here in the UK enables a less strict diet for those who are lucky enough to respond to it (approximately 30% response rate). While there isn’t currently a cure for PKU, trials have started in the US for gene therapy to repair the missing PAH gene. The PAH gene provides instructions for making an enzyme called Phenylalanine Hydroxylase. This enzyme handles the first step in processing Phenylalanine.
Truth About Life with PKU 