Is PKU Chromosomal Or Genetic?

Does PKU run in families?

PKU is passed down through families.

For a baby to have the disease, he or she must get (inherit) the PKU gene from both parents.

The father and mother may not have PKU or even know that PKU runs in their families..

Which gene causes phenylketonuria?

Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body.

Is PKU more common in males or females?

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.)

Who is most likely to get PKU?

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.

Is PKU a disability?

Because the severity of PKU cases vary from individual to individual, however, a diagnosis of PKU in and of itself is not enough to qualify a person for Social disability benefits.

Where is phenylalanine hydroxylase found in the body?

Liver cells contain an enzyme called phenylalanine hydroxylase, which can add this group and convert phenylalanine to tyrosine. Thus as long as this enzyme is functional and there is a reasonable supply of phenylalanine, tyrosine can be synthesized in your body and does not have to be included in the food that you eat.

Can you outgrow PKU?

A person with PKU does not outgrow it and must stay on the diet for life.

What does PKU smell like?

If PKU is untreated, or if foods containing phenylalanine are eaten, the breath, skin, ear wax, and urine may have a “mousy” or “musty” odor. This odor is due to a buildup of phenylalanine substances in the body.

How is PKU inherited?

PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene.

What is the life expectancy of someone with PKU?

About one in 15,000 babies is born with PKU in the United States. PKU leads to a build-up of the amino acid phenylalanine, which is toxic to the nervous system. Without treatment, PKU can cause intellectual disabilities. PKU does not shorten life expectancy, with or without treatment.

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.

Why are people who have PKU generally very light in their coloration?

Children with PKU have lower levels of melanin, the substance that gives color to hair and skin. That’s because when phenylalanine is broken down, one of its products is used to make melanin. As a result, children with PKU often will have pale skin, blond hair and blue eyes.