Untreated PKU can lead to:
Irreversible brain damage and marked intellectual disability
beginning within the first few months of life. Neurological problems such as seizures and tremors. Behavioral, emotional and social problems in older children and adults.
Who does phenylketonuria affect?
The reported incidence of PKU from newborn screening programs ranges from one in 13,500 to 19,000 newborns in the United States. PKU affects
people from most ethnic backgrounds
, although it is rare in Americans of African descent and Jews of Ashkenazi ancestry.
As children and adolescents, patients with PKU may have
learning difficulties, school problems, decreased motivation, less social competence
, irritability, hyperactivity, mood disorders, and poor self esteem.
How does phenylketonuria affect growth?
A baby born to a woman who has PKU that is not controlled with a special diet is at high risk for serious problems. The developing baby in the
uterus can be exposed to very high levels of
phenylalanine. This can cause low birth weight, slow growth, small head, behavior problems, and heart disorders.
How does phenylketonuria affect the cell?
The PKU gene tells
the cell to make an enzyme that breaks down the amino acid phenylalanine
. Faults in the genes (mutations) may cause problems in the body because the correct message is not being sent. In PKU, the cells are not making the enzyme that breaks down phenylalanine, so it builds up in the blood and tissues.
How does phenylketonuria affect the body?
Phenylketonuria (PKU) is a treatable disorder that
affects the way the body processes protein
. Children with PKU cannot use a part of the protein called phenylalanine. If left untreated, phenylalanine builds up in the bloodstream and causes 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.
Can phenylketonuria be cured?
There currently is no cure for PKU
, but the condition is controllable through proper diet and supplements. What kinds of diets do children with PKU need to adopt? PKU is caused by the body's inability to metabolize phenylalanine, which is found in high protein foods such as poultry, meat, eggs and dairy products.
Is PKU a disability?
The Social Security Administration does recognize
phenylketonuria
in its Blue Book of Medical Listings under Section 10.00 in paragraph C. 2. However, a diagnosis of the condition itself is not enough to qualify an individual for Social Security Disability benefits, regardless of the SSA's listing inclusion.
Can you outgrow PKU?
A person with
PKU does not outgrow it
and must stay on the diet for life.
What cell is affected by phenylketonuria?
The signaling molecules that brain cells use to communicate with each other are called neurotransmitters. When neurotransmitters are not made in the right amounts, the brain cannot function properly.
What happens if you have too much phenylalanine?
Phenylalanine can cause
intellectual disabilities, brain damage, seizures
and other problems in people with PKU . Phenylalanine occurs naturally in many protein-rich foods, such as milk, eggs and meat. Phenylalanine is also sold as a dietary supplement.
What causes 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.
How is phenylketonuria detected?
PKU is
diagnosed with a blood test
. In the United States and most other countries, a blood test is taken through a heel stick on newborn babies within 48 hours of birth. Further tests will be required to confirm the type of PKU and plan the best way of treating it.
What foods should you avoid if you have PKU?
- Meat, eggs, and fish.
- Bread, noodles, and wheat products.
- Nuts, peas, and beans (and products made from these foods).
- Milk and cheese.
- Chocolate.
How does phenylalanine affect the brain?
The high plasma phenylalanine concentrations
increase phenylalanine entry into brain and restrict the entry of
other large neutral amino acids. In the literature, emphasis has been on high brain phenylalanine as the pathological substrate that causes mental retardation.
