What is moderate PKU?

Moderate PKU is for individuals who tolerate 350-400 mg dietary phenylalanine per day and mild PKU are those who tolerate 400-600 mg dietary phenylalanine per day.

Why is phenylalanine build up bad?

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 does it mean to be a carrier of PKU?

If you inherit the gene from just one parent, you have the gene change for PKU, but you don’t have PKU. When this happens, you’re called a PKU carrier. A PKU carrier has the gene change but doesn’t have PKU.

At what age does PKU become evident?

Different forms of phenylketonuria vary in their severity of signs. Classic phenylketonuria (PKU) is the most severe form. Babies with PKU usually seem healthy at birth. Signs of PKU begin to appear around six months of age.

Can you develop PKU later in life?

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

What race is PKU most common in?

In the United States, PKU is most common in people of European or Native American ancestry. It is much less common among people of African, Hispanic, or Asian ancestry.

What foods do you avoid with PKU?

PKU diets typically do not contain high-protein foods such as:

Meat, eggs, and fish.
Bread, noodles, and wheat products.
Nuts, peas, and beans (and products made from these foods).
Milk and cheese.
Chocolate.

What are the symptoms of phenylketonuria ( PKU )?

PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body. Neurological problems that may include seizures.

What does PKU stand for in medical terms?

PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down a substance called phenylalanine (Phe). Phe is part of proteins that are found in many foods and in an artificial sweetener called aspartame. If you have PKU and eat these foods, Phe will build up in the blood.

Do you have to pass down the PKU gene?

Genes are the basic units of heredity passed down from your mother and father. For a child to get the disorder, both the mother and father must pass down a mutated PKU gene. Although PKU is rare, all newborns in the United States are required to get a PKU test. The test is easy, with virtually no health risk.

How does PKU affect the white matter tracts?

Classic PKU dramatically affects myelination and white matter tracts in untreated infants; this may be one major cause of neurological disorders associated with phenylketonuria.