Quick Answer: Who Is Most Affected By PKU?

Why does phenylketonuria cause mental retardation?

1) deficiency.

PAH is a liver-specific enzyme that catalyses the hydroxylation of l-phenylalanine (Phe) to l-tyrosine in the presence of the cofactor, tetrahydrobiopterin.

Accumulation of phenylalanine generates a brain damage and consequently irreversible mental retardation..

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.

What outcome is likely if both parents are carriers of PKU?

If both of a child’s parents are carriers, there is a 25% chance that each parent will pass on the normal PAH gene. In this case, the child will not have the disorder. Conversely, there also is a 25% chance that the carrier parents will both pass along the mutated gene, causing the child to have PKU.

How is the family of a person with PKU affected?

As PKU is inherited in an autosomal recessive fashion, all children of a mother with PKU will inherit 1 affected gene.

Can you outgrow PKU?

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

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.

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.)

How do they test for PKU in adults?

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.

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.

What can a child with PKU eat?

A child with PKU should not eat milk, fish, cheese, nuts, beans, or meat. A child with PKU can eat many foods low in protein, such as vegetables, fruits, and some cereals. Your child may also need to take mineral and vitamin supplements to make up for nutrients missing from the diet.

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.

Is PKU a disability?

In order to qualify for Social Security Disability benefits due to a diagnosis of phenylketonuria, you must be able to prove that your condition prevents you from performing any type of substantial gainful work activity.

Why do people with phenylketonuria have light skin?

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.

How do u know if u have 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. Skin rashes (eczema)

Does phenylketonuria skip a generation?

In pedigrees of families with multiple affected generations, autosomal recessive single-gene diseases often show a clear pattern in which the disease “skips” one or more generations. Phenylketonuria (PKU) is a prominent example of a single-gene disease with an autosomal recessive inheritance pattern.

Is there a cure coming soon for PKU?

Currently, there is no cure for PKU, however, the prevailing treatment is predominantly through dietary restriction of Phe to the minimum required for normal growth, supplemented with specifically designed medical foods.