PKU (Phenylketonuria)

Hello everyone, in this blog I'm going to talk to you about my PKU life, but as its so rare I know a lot of people won't have heard of it, so please see below for a quick introduction to PKU. If you want to know more information, please comment your questions :)

Introduction 

Phenylketonuria (PKU) is a rare genetic condition that's present from birth (congenital).

The body is unable to break down a substance called phenylalanine (see below), which builds up in the blood and brain. High levels of phenylalanine can damage the brain.

PKU is treated with a special low-protein diet, which reduces the levels of phenylalanine in the body and prevents brain damage.

PKU doesn't usually cause any symptoms if treatment is started early. If PKU isn't treated, damage to the brain and nervous system can lead to:

• learning disabilities 
• behavioural difficulties 
• epilepsy  

High levels of phenylalanine can also cause eczema.  

Read more about the symptoms of phenylketonuria.

Phenylalanine

Phenylalanine is an amino acid (a "building block" of protein). The phenylalanine in your body comes from protein in your diet, particularly high-protein foods, such as:

• meat 
• fish 
• eggs 
• cheese 
• milk 

What happens?

The body takes in phenylalanine from the digestion of protein in the gut. Once it's entered the body, phenylalanine is either used to make proteins or removed by an enzyme (protein) called phenylalanine hydroxylase.

In people with PKU, phenylalanine hydroxylase doesn't work properly due to a genetic mutation (alteration in their DNA). As a result, phenylalanine levels in the blood and other tissues rise. 

Read more about the causes of phenylketonuria.

(Information taken from NHS Choices website http://www.nhs.uk/Conditions/Phenylketonuria/Pages/Introduction.aspx)