Phenylketonuria
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:
Symptoms
Treatment
How PKU is inherited
Adults with PKU
Pregnancy and PKU
Medically Reviewed by a doctor on 14 Dec 2016
Introduction
Read about phenylketonuria (PKU), a rare genetic condition that's present from birth (congenital), where the body is unable to break down phenylalanine.
Diagnosing PKU
At around five days old, babies are offered newborn blood spot screening to check if they have PKU or a number of other conditions. This involves pricking your baby's heel to collect drops of blood t
Symptoms of PKU
PKU doesn't usually cause any symptoms if treatment is started early. Without treatment, PKU can damage the brain and nervous system, whichcanlead to learning disabilities. Other symptoms of untreat
TreatingPKU
Diet The main treatment for PKU is a low-protein diet that completely avoids high-protein foods such as meat, eggs and dairy products and controls the intake of many other foods, such as potatoes a
How PKU is inherited
The genetic cause (mutation) responsible forPKU is passed on by the parents, who are usually carriers and don't have any symptoms of the condition themselves. The way this mutation is passed on is kn
Adults with PKU
Manyadults with PKU find they function best while on a low protein diet. The current advice is for people with PKU to remain on a low protein diet for life. However, this wasn't always the case in th
PKU and pregnancy
Women with PKU have to take particular care during pregnancy, because high levels of phenylalanine can damage the unborn baby. Providing that phenylalanine levels are strictly controlled during pregn
Information about you
If you or your child has PKU, your clinical team will pass information about youon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for
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