Phenylketonuria Detection with Newborn Screening Test

Phenylketonuria Detection with Newborn Screening Test

The newborn’s arrival in the family is a moment of immense joy. While enjoying those happy first few days with the newborn, the parents must not miss the newborn screening test. Newborn screening is essential. A simple blood test within 2-3 days of birth enables early detection and timely treatment of genetic, metabolic, and congenital conditions, helping prevent lifelong defects, disability, developmental delays, or even death.

One of the essential Newborn screening tests discussed here is phenylketonuria screening. Read on to get full insight, and then don’t miss out on getting the test done with the right professional.

What is the Newborn Screening Test to Detect Phenylketonuria?

The phenylketonuria (PKU) screening test is a part of the Newborn screening Panel that measures the level of an amino acid, phenylalanine (Phe), the protein building block, in the newborn’s blood sample. If the newborn is detected with a high, out-of-range level of phenylaniline, then the newborn is said to be suffering from phenylketonuria.

Phenylketonuria is caused by a change in the gene responsible for making an enzyme, phenylalanine hydroxylase, that breaks phenylalanine down. It can be mild to severe, depending on the extent of change of the gene- whether the enzyme is still working to some extent or is completely non- functional.

Though phenylketonuria is a rare genetic disorder, all newborns must be screened for it. The screening test is easy, has no health-related risks, and can help prevent serious health issues.

Why Newborns Need Phenylketonuria Screening Test?

Phenylketonuria in newborns could be very serious. If a newborn is detected with high phenylalanine build-up in the blood after a screening test, then the newborn is at higher risk of permanent damage to the nervous system and brain, and/or other serious health issues for a lifetime. To avoid them, newborns must go through a phenylketonuria screening test.

Here are the symptoms of phenylketonuria that indicate the requirement for a phenylketonuria screening test and the treatment:

• Learning disabilities
• Skin rashes like eczema
• Microcephaly or an abnormally small head
• Delay in development
• A musty smell coming from the skin, breath, and/or urine.

Why The Key Details of Phenylketonuria Screening Test in Newborns

Preparation: No special preparation is required from either the parent or the newborn.

Procedure: Midwives or Nurses will clean the newborn’s heel with alcohol and then prick the heel to collect a few drops of blood on a Guthrie card- a special paper type. The needle-pricked heel will then be bandaged.

When to get phenylketonuria detected: Newborns must be screened for accurate results. This much waiting is necessary, as by the time the blood is collected, there should be some phenylalanine present from the breast milk or feed formula.

The result: If phenylalanine levels are normal, PKU is unlikely. If levels are high, further tests are needed to confirm PKU or rule out similar conditions. In case of confirmed PKU, a phenylalanine-free food supplements is recommended, followed by lifelong specialised dietary management.

Risks: The “screening test” itself has minimal to no risk. Just a small prick of baby’s heel with a little or no discomfort.

With early Newborn screening for phenylketonuria (PKU), the serious risks associated with this condition can be effectively prevented, giving every child a healthier start to life. So don’t miss the opportunity, screen early, protect early.