Health Encyclopedia

Serum phenylalanine screening

Definition

Serum phenylalanine screening is a blood test to look for signs of the disease phenylketonuria (PKU). The test detects abnormally high levels of an amino acid called phenylalanine.

Alternative Names

Phenylalanine - serum

How the test is performed

The test is usually included in routine screening tests, which are done before the newborn leaves the hospital. If the child is not born in the hospital, the test should be done in the first 48 to 72 hours of life.

An area of the infant's skin, usually the heel, is cleaned with a germ killer (antiseptic) and punctured with a sharp needle or a lancet. Three drops of blood are placed in three separate test circles on a piece of paper. Cotton or a bandage may be applied to the puncture site if there is any continued bleeding.

The test paper is taken to the laboratory where it is mixed with a type of bacteria that needs phenylalanine to grow and another substance that blocks phenylalanine from reacting with anything else.

How to prepare for the test

For help preparing your baby for the test, see infant test or procedure preparation (birth to 1 year).

How the test will feel

When the needle is inserted to draw blood, some infants feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing. Infants are given a small amount of sugar water, which has been shown in studies to reduce the painful sensation associated with the skin puncture.

Why the test is performed

This test is done to screen infants for phenylketonuria (PKU), a relatively rare condition that occurs when the body lacks a substance needed to breakdown the amino acid phenylalanine.

If PKU is not detected early, increasing phenylalanine levels will cause mental retardation. When discovered early, changes in the diet can help prevent the severe side effects of PKU.

Normal Values

A normal test results in no bacteria growth. This indicates that phenylalanine levels are normal.

What abnormal results mean

Bacteria growth indicates that phenylalanine levels in the infant's blood are too high. PKU is a possibility and further testing will be performed.

What the risks are

The risks of having blood drawn are slight, but include:

Excessive bleeding
Fainting or feeling lightheaded
Hematoma (blood accumulating under the skin)
Infection (a slight risk any time the skin is broken)
Multiple punctures to locate veins

Review Date:11/14/2007
Reviewed By:Deirdre O’Reilly, M.D., M.P.H., Neonatologist, Division of Newborn Medicine, Children’s Hospital Boston and Instructor in Pediatrics, Harvard Medical School, Boston, Massachusetts.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.