Phenylketonuria
Introduction
Source: NHS
In this topic (8)
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:
Articles for Phenylketonuria
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
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
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
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
Introduction
Read about phenylketonuria (PKU), a rare genetic condition that's present from birth (congenital), where the body is unable to break down phenylalanine.
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
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
