Facebook What is PKU? Phenylketonuria PKU is a rare inherited condition in which there is a build up of phenylalanine in the body. Phenylalanine is a natural substance; it is a building block of protein. PKU is looked for in all newborns in the United Kingdom by measuring phenylalanine levels in the heel-prick blood test.
Phenylketonuria PKU is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. Phenylalanine is found in all proteins and some artificial sweeteners.
Phenylalanine hydroxylase is an enzyme your body uses to convert phenylalanine into tyrosine, which your body needs to create neurotransmitters such as epinephrine, norepinephrine, and dopamine.
PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. This causes a buildup of phenylalanine in your body. The condition is uncommon in this country, only affecting about 1 in 10, to 15, Pku phenylketonuria each year. The severe signs and symptoms of PKU are rare in the United States, as early screening allows treatment to begin soon after birth.
Early diagnosis and treatment can help relieve symptoms of PKU and prevent brain damage. Symptoms of phenylketonuria PKU symptoms can range from mild to severe.
The most severe form of this disorder is known as classic PKU. An infant with classic PKU may appear normal for the first few months of their life. This occurs when the baby has too much phenylalanine in their body. Once a specific diet and other necessary treatments are started, symptoms start to diminish.
The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine. A dangerous buildup of phenylalanine can occur when someone eats high-protein foods, such as eggs and meat.
Both parents must pass on a defective version of the PAH gene for their child to inherit the disorder. The screening test is performed when the baby is one to two days old and still in the hospital.
Additional tests may be performed to confirm the initial results. These tests are often done within six weeks after birth.
If a child or adult shows symptoms of PKU, such as developmental delays, the doctor will order a blood test to confirm the diagnosis.
This test involves taking a sample of blood and analyzing it for the presence of the enzyme needed to break down phenylalanine. People with PKU can relieve their symptoms and prevent complications by following a special diet and by taking medications.
Diet The main way to treat PKU is to eat a special diet that limits foods containing phenylalanine. Infants with PKU may be fed breast milk.
They usually also need to consume a special formula known as Lofenalac. When your baby is old enough to eat solid foods, you need to avoid letting them eat foods high in protein.Phenylketonuria (PKU) is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life.
Phenylketonuria (PKU) is a lifelong condition and Vitaflo are here to support you every step of the way. At VitafriendsPKU you’ll find all the information you need about your protein substitute: how to make and take it, avalailable flavours and what products your dietitian might talk to you about.
What is PKU?
by Dr. Tracy L. Beck, Ph.D. Have you ever looked at the label on a diet soda can and seen the warning: Phenylketonurics - contains phenylalanine?I personally know of several people who refuse to drink diet soda because the word "phenylketonurics" sounds too scary!
The information within this web site is for educational purposes only, and should not be used as medical advice. A physician should be consulted for any diagnosis and treatment options.
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.
PKU affects people from most ethnic backgrounds, although it is rare in Americans of African descent and Jews of Ashkenazi ancestry. Related Disorders Symptoms of the following disorders can be similar to those of phenylketonuria.