E70.1: Other hyperphenylalaninaemias

You have been diagnosed as having an increased level of the amino acid phenylalanine in your blood.

Amino acids perform many different functions in the body. The body needs amino acids to, for example, produce proteins. Some amino acids have to be consumed via food. Other amino acids can be produced in the body. Phenylalanine is normally taken with food. It is increasingly found in meat, dairy products and pulses, for example. There are various reasons why you can have too much phenylalanine in your blood. With some disorders, for example, the body is unable to process phenylalanine properly. The phenylalanine consumed with food can accumulate in the body and cause problems.

The disorder can be of varying severity. The person may have almost no symptoms, too. If the disorder develops more severely and is not treated promptly, the accumulated phenylalanine can damage the brain. The person’s mental capacities may then be restricted. Physical development can also be delayed. Certain mental disorders can occur more frequently than normal, too.

The condition is usually inherited. Other family members may also be affected.