Phenylketonuria
Manyadults with PKU find they function best while on a low protein diet. The current advice is for people with PKU to remain on a low protein diet for life.
However, this wasn't always the case in the past and many adults with PKU were advised to stop dietary treatment in their teens. The majority of these adults are doing well with jobs and families of their own.
Unlike in young children, there is not yet any evidence that high phenylalanine levels cause any permanent brain damage in adults with PKU.
Some adults with PKU may have higher phenylalanine levels because they find it difficult to follow the low protein diet or have returned to a normal diet. As a result, they may find they don't function as well. For example, they may lose concentration or have aslower reaction time.
These adverse effects can usually be reversed by going back on to a stricter diet to bring the phenylalanine levels down again.
Anyone who returned to a normal diet should still be supported by their clinicians and have a regularfollow-up to monitor their condition for any complications that might arise.
For women with PKU, it's essential that they return to a strict diet if they're considering becoming pregnant, because high phenylalanine levels can harm an unborn child.
Read about phenylketonuria (PKU), a rare genetic condition that's present from birth (congenital), where the body is unable to break down phenylalanine.
At around five days old, babies are offered newborn blood spot screening to check if they have PKU or a number of other conditions. This involves pricking your baby's heel to collect drops of blood t
PKU doesn't usually cause any symptoms if treatment is started early. Without treatment, PKU can damage the brain and nervous system, whichcanlead to learning disabilities. Other symptoms of untreat
Diet The main treatment for PKU is a low-protein diet that completely avoids high-protein foods such as meat, eggs and dairy products and controls the intake of many other foods, such as potatoes a
The genetic cause (mutation) responsible forPKU is passed on by the parents, who are usually carriers and don't have any symptoms of the condition themselves. The way this mutation is passed on is kn
Manyadults with PKU find they function best while on a low protein diet. The current advice is for people with PKU to remain on a low protein diet for life. However, this wasn't always the case in th
Women with PKU have to take particular care during pregnancy, because high levels of phenylalanine can damage the unborn baby. Providing that phenylalanine levels are strictly controlled during pregn
If you or your child has PKU, your clinical team will pass information about youon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for