What is phenylketonuria and its symptoms?

What is phenylketonuria and its symptoms?

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 change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine.

What happens to the body in phenylketonuria?

In a child with PKU, phenylalanine cannot be converted to tyrosine because the phenylalanine hydroxylase enzyme does not work properly. This results in dangerously high levels of phenylalanine that build up in the blood and become toxic to the brain and nervous system.

What happens during phenylketonuria to cause brain damage?

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

What is the life expectancy of a person with phenylketonuria?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child’s outlook is very good if she strictly follows the diet.

When do symptoms of phenylketonuria appear?

Babies who have PKU seem normal for the first few months of life. But without treatment, they begin to show signs and symptoms of the illness at about 6 months of age.

How is phenylketonuria diagnosed?

PKU can be easily detected with a simple blood test. All states in the United States require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.

When do PKU symptoms start?

Can PKU develop in adults?

Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases.

Can phenylketonuria be cured?

There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems.

What foods can a person with phenylketonuria eat?

The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas.

Which of the following is the common symptoms of phenylketonuria?

Small head size, called microcephaly (pronounced mahy-kroh-SEF-uh-lee) A musty odor in urine, breath, or skin that is a result of the extra phenylalanine in the body. Fair skin and blue eyes, due to the body’s failure to transform phenylalanine into melanin, the pigment responsible for a person’s coloring.

What does PKU urine smell like?

This deficiency causes elevated phenylalanine levels in the body. One of the unique features of PKU is a “mousy” or “musty” odor to the skin, hair, sweat and urine due to the elevated phenylalanine levels.

What is a PKU diet?

Overview. A low-protein diet is the main treatment for phenylketonuria (PKU). This is because people who have PKU lack an enzyme to properly process the amino acid phenylalanine, a part of protein. Phenylalanine is present in all protein foods and in some nonprotein foods, such as soda pop and artificial sweeteners.

What foods should be avoided with PKU?

Foods that contain large amounts of phe must be eliminated from a low phe diet. These foods are high protein foods, such as milk, dairy products, meat, fish, chicken, eggs, beans, and nuts. These foods cause high blood phe levels for people with PKU.

What foods can you eat with PKU?

Can PKU eat rice?

Individuals with PKU cannot drink regular milk, eat regular cheese, pasta, bread, biscuits or rice. Some examples of the costs involved for common low protein foods are: $15.75 for a 400g tin of milk replacer.

Can people with PKU eat potatoes?

Vegetables: Starchy vegetables like white, sweet, purple potatoes (and fries), winter squash, corn, and peas should be eaten sparingly. Most other fresh or frozen vegetables are low in phenylalanine with the exception of the ones on the non-compliant list.