Introduction

Phenylketonuria (PKU) is a rare, but potentially serious,inherited disorder.

Our bodies break down protein in foods like meat and fish into amino acids, which are the "building blocks" of protein. These amino acids are then used to make our own proteins. Any amino acids that aren't needed are broken down further and removed from the body.

People with PKU can't break down the amino acid phenylalanine, which then builds up in the blood and brain. This can lead to brain damage.

This topic covers:

Phenylketonuria

Symptoms

Treatment

How PKU is inherited

Adults with PKU

Pregnancy and PKU

Content supplied by the NHS Website

Medically Reviewed by a doctor on 14 Dec 2016