How is phenylketonuria managed?

How is phenylketonuria managed?

PKU is treated by cutting back on protein to limit the intake of phenylalanine. If you or your child is diagnosed with moderate to severe PKU, you will need to adjust the diet to include special formulas and meals. These changes include a diet that is low in phenylalanine, while ensuring adequate protein intake.

What is the best diet for a patient of phenylketonuria?

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.

Can phenylketonuria be treated by diet?

The main treatment for PKU includes: A lifetime diet with very limited intake of protein, because foods with protein contain phenylalanine.

What are the main principles of dietary management in PKU?

The mainstay of the diet consists of phenylalanine restriction and supplementation of other essential amino acids, vitamins, minerals, and energy intake, using medical foods and low-protein foods. Aspartame must also be avoided.

What triggers phenylketonuria?

PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener.

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.

Can you eat potatoes with PKU?

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.

What happens if someone with PKU eat protein?

A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.

What parts of the body does phenylketonuria affect?

Without the enzyme, levels of phenylalanine build up in the body. This buildup can harm the central nervous system and cause brain damage.

What is the life expectancy of someone with phenylketonuria?

At what age does PKU become evident?

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.

What gender is PKU most common in?

Each year 10,000 to 15,000 babies are born with the disease in the United States and Phenylketonuria occurs in both males and females of all ethnic backgrounds (although it is more common in individuals of Northern European and Native American heritage.)

Is the PKU diet a good treatment for phenylketonuria?

A PKU diet is the key treatment strategy if you have the genetic disorder phenylketonuria (PKU), in which you are missing an enzyme that allows for the conversion of phenylalanine to tyrosine (both amino acids).

Is there a cure for phenylketonuria in children?

[1] [2] Because PKU can be detected by a simple blood test and is treatable, PKU is part of newborn screening. Treatment for PKU normally involves a phenyalanine-restricted diet that is monitored carefully. Some children and adults with PKU may be helped by the medication sapropterin in combination with a low-phenylalanine diet.

How does phenylketonuria affect the human body?

Summary Summary. Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body’s levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. Humans cannot make phenyalanine, but it is a natural part of the foods we eat.

How does a phenylketonuria registry support research?

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Phenylketonuria. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.