What is the normal range for PKU?
A normal level is less than 2 milligrams per deciliter (mg/dL). More than 4 mg/dL is considered high.
What is a normal Phe level?
The ideal range for blood Phe levels is around 2-6mg/dl (120-360 µmol/L). For young chil- dren, many PKU doctors recommend striving for the lower portion of this range. The target Phe range ensures that the body is provided enough Phe for essential functions.
What is the goal range for blood phenylalanine levels in patients with PKU?
Aim for blood phenylalanine levels between 120 and 360 μmol/L. If blood phenylalanine levels are higher, there should be a gradual reduction and titration of dietary phenylalanine intake until blood phenylalanine levels are within target range.
What is an abnormal PKU test?
Ask the healthcare provider what the test results mean for your child. The test screens for blood levels of phenylalanine. Normal levels of phenylalanine in the blood are less than 2 milligrams per deciliter (mg/dL). More than 4 mg/dL of phenylalanine in the blood is considered high and may mean your child has PKU.
What causes high phenylalanine levels?
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 high phenylalanine mean?
What would happen to the blood phenylalanine levels in individuals with PKU?
The most severe form of the disorder is called classic PKU. The enzyme needed to convert phenylalanine is missing or severely reduced, resulting in high levels of phenylalanine and severe brain damage.
What does too much phenylalanine do to the body?
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.
How is PKU diagnosed?
Newborn blood testing identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU. If you have PKU or a family history of it, your doctor may recommend screening tests before pregnancy or birth.
When is 2nd PKU test done?
The American Academy of Pediatrics recommends that a PKU screening test be repeated by two weeks of age if it was performed before the newborn was 24 hours of age.
What diseases does the PKU test for?
Newborn Screening Tests
- Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine.
- Congenital hypothyroidism.
- Galactosemia.
- Sickle cell disease.
- Maple syrup urine disease.
- Homocystinuria.
- Biotinidase deficiency.
- Congenital adrenal hyperplasia.
How are blood phenylalanine levels related to PKU?
Blood Phenylalanine Levels. Monitoring blood Phe levels is an important part of managing PKU. PKU and the effects of treatment are evaluated by monitoring blood Phe levels. Keeping blood Phe levels under control leads to a lower risk of brain, mood or social problems. The ideal range for blood Phe levels is around 2-6mg/dl (120-360 µmol/L).
When do you need a PKU blood test?
A PKU test is used to see if a newborn has high levels of Phe in the blood. This may mean the baby has PKU, and more tests will be ordered to confirm or rule out a diagnosis. Why does my baby need a PKU screening test?
How does the Guthrie test for early diagnosis of phenylketonuria?
Guthrie then placed blood samples, dried on thick filter paper, onto that gel. If the blood sample contained phenylalanine, B. subtilis grew around the blood sample and indicated that patient had PKU. If the sample of blood did not contain phenylalanine, B. subtilis did not grow around the blood sample, indicating that the patient did not have PKU.
How much L-phenylalanine is in Guthrie blood test?
Guthrie added 2, 4, 8, 12, and 20 milligrams of L-phenylalanine per 100 milligrams of blood serum to normal blood samples to mimic the levels of phenylalanine found in patients affected with PKU.