Home : What is PKU?
What is PKU?
Phenylketonuria, or PKU for short, is an inherited metabolic disorder which affects approximately 1 in 10,000 people in the UK.
If left untreated, the disorder causes mental retardation and various neurological problems. Fortunately, it is possible to
effectively treat the disorder via a very low protein diet and regular consumption of a supplement. The supplement consists
of 20 of the 21 amino acids that protein is constructed from. The excluded amino acid is phenylalanine, which cannot be broken
down by a PKU patient. For more on the treatment of PKU, click here.
A simple test is performed shortly after birth which identifies babies with PKU. The test is statutory in the UK and is performed in most developed countries with more and more countries making the test a standard.
As mentioned previously, the PKU patient is unable to process the amino acid phenylalanine, which is one of 21 amino acids which are found in protein. If the patient does not follow a low protein diet, the phenylalanine found in protein rich foods will build up in the body and damage the brain. The damage to the brain can cause retardation, learning difficulties and various behavioural problems such as aggressiveness, hyperactivity, self-damaging behaviour and sleep problems. Skin conditions such as eczema are also common in people with high phenylalanine levels in the blood.
To learn more about PKU, please have a look through the Question and Answer section.
A simple test is performed shortly after birth which identifies babies with PKU. The test is statutory in the UK and is performed in most developed countries with more and more countries making the test a standard.
As mentioned previously, the PKU patient is unable to process the amino acid phenylalanine, which is one of 21 amino acids which are found in protein. If the patient does not follow a low protein diet, the phenylalanine found in protein rich foods will build up in the body and damage the brain. The damage to the brain can cause retardation, learning difficulties and various behavioural problems such as aggressiveness, hyperactivity, self-damaging behaviour and sleep problems. Skin conditions such as eczema are also common in people with high phenylalanine levels in the blood.
To learn more about PKU, please have a look through the Question and Answer section.