Understanding the basic's of PKU

What is PKU?

PKU is a disorder that causes difficulty for the body to break down certain types of food. Foods are made up of many chemicals that the body processes to use building tissue and to produce energy. Kids with PKU can't break down a common food chemical called phenylalanine. Phenylalanine is an amino acid, one of the building blocks of protein. Unless kids with PKU avoid food rich in this chemical, more and more phenylalanine collects in their bodies. This can cause serious health and learning problems. Luckily, following a special diet low in phenylalanine and high in other amino acids from an early age can prevent these problems. Most kids, teens, and adults with PKU who have followed the diet are healthy people.

You can't grow out of PKU. Though it is most important to follow a low phenylalanine diet as a child, it is now known that people with PKU who follow the diet for their whole lives are healthier and have fewer health problems.

How many people have PKU?

In the United States, one baby out of every 10,000-15,000 is born with PKU.

Who can get PKU?

All people with PKU, are born with it. PKU is an inherited condition, meaning that it is passed through families. People with PKU have two non-working PKU genes. A gene is like a blueprint for a chemical that the body needs. To have a child with PKU, each parent must have a non-working PKU gene and pass it on through egg and sperm to their child. (See Genetics of PKU) Carriers have one PKU gene and be healthy (they often don't know they're carriers!), but have a chance for passing that gene on to their children. Many kids with PKU have no other family members who have PKU, but many family members who are healthy carriers.

A parent or child can't cause or prevent PKU. We have no control over the genes that are contained in our bodies or inherited from our parents All of us even those without PKU carry genes for serious diseases. However, most of us will never know this unless we have children with someone with the same disease gene, and our child inherits this gene from both of us.

Male and females of any race can have PKU. It is more common in families who have ancestors from Northern Europe.

How do you test for PKU?

All newborn babies are tested for PKU. A sample of blood is taken from a prick on the baby's heel, and that blood is screened to see if it has a normal level of phenylalanine. If a high level of phenylalanine is seen, more tests are done to confirm that the baby has PKU.

If PKU is in your family, there are special tests that can be done to look directly at the PKU genes and determine which family members are carriers for PKU.

	What is PKU?
	PKU is a disorder that causes difficulty for the body to break down certain types of food. Foods are made up of many chemicals that the body processes to use building tissue and to produce energy. Kids with PKU can't break down a common food chemical called phenylalanine. Phenylalanine is an amino acid, one of the building blocks of protein. Unless kids with PKU avoid food rich in this chemical, more and more phenylalanine collects in their bodies. This can cause serious health and learning problems. Luckily, following a special diet low in phenylalanine and high in other amino acids from an early age can prevent these problems. Most kids, teens, and adults with PKU who have followed the diet are healthy people. You can't grow out of PKU. Though it is most important to follow a low phenylalanine diet as a child, it is now known that people with PKU who follow the diet for their whole lives are healthier and have fewer health problems.
	How many people have PKU?
	In the United States, one baby out of every 10,000-15,000 is born with PKU.
	Who can get PKU?
	All people with PKU, are born with it. PKU is an inherited condition, meaning that it is passed through families. People with PKU have two non-working PKU genes. A gene is like a blueprint for a chemical that the body needs. To have a child with PKU, each parent must have a non-working PKU gene and pass it on through egg and sperm to their child. (See Genetics of PKU) Carriers have one PKU gene and be healthy (they often don't know they're carriers!), but have a chance for passing that gene on to their children. Many kids with PKU have no other family members who have PKU, but many family members who are healthy carriers. A parent or child can't cause or prevent PKU. We have no control over the genes that are contained in our bodies or inherited from our parents All of us even those without PKU carry genes for serious diseases. However, most of us will never know this unless we have children with someone with the same disease gene, and our child inherits this gene from both of us. Male and females of any race can have PKU. It is more common in families who have ancestors from Northern Europe.
	How do you test for PKU?
	All newborn babies are tested for PKU. A sample of blood is taken from a prick on the baby's heel, and that blood is screened to see if it has a normal level of phenylalanine. If a high level of phenylalanine is seen, more tests are done to confirm that the baby has PKU. If PKU is in your family, there are special tests that can be done to look directly at the PKU genes and determine which family members are carriers for PKU.