Phenylketonuria (PKU)

PKU is a disorder that is the result of an individual being unable to break down and remove excessive amounts of amino acids and inability to break down one particular amino acid - phenylalanine.

Our bodies break down proteins in foods into amino acids that our bodies then make into proteins. People with PKU are unable to do this, which results in a build up of protein in blood and the brain.

PKU is diagnosed using a heel prick test on neonates.

Effects of PKU:

• Can lead to learning disabilities (if not detected early).
• In severe cases this can cause brain damage without treatment.

The main treatment for PKU is a low protein diet where meat and dairy products are avoided, and in some cases, additional amino acid supplements are taken.

Symptoms of PKU:

• Abnormality in the size of the head – usually smaller
• Hyperactivity
• Seizures
• Severe eczemas
• Odour to the breath or urine