Newborn Screenings: Your Baby’s First Test

Posted on Jul. 2nd, 2013 at 11:00am

By Elisha London, RD, CSP

This journal post is for informational purposes only. For the diagnosis or treatment of metabolic disorders, it is important that you consult your child’s pediatrician or doctor.

Elisha London, RD, CSP
Global Regulatory and Nutrition Scientist
Mead Johnson Nutrition

As a mom of two children, I know through first-hand experience that the arrival of a new baby is exciting and even a little overwhelming. The first week of life can seem like a whirlwind, with so much happening. In most cases, the first week of life includes routine newborn screening. This tiny heel prick, the part of the newborn screening process we see, is vital to a newborn’s health because it can lead to the diagnosis of a number of disorders.

In the U.S. and many countries throughout the world, newborn screenings are simple tests that check for rare, but harmful – and even potentially fatal – disorders not apparent at birth – including inborn errors of metabolism, also called inherited metabolic disorders. Infants diagnosed with inherited metabolic disorders cannot break down one or more specific nutrients. If left unmanaged, these disorders can hinder physical and mental development.

Inherited metabolic disorders are rare, with incidences varying by country and ethnicity. One of the more predominant inherited metabolic disorders is Phenyketonuria, or PKU, a condition in which a baby cannot properly break down an amino acid called phenylalanine. PKU affects nearly one in 15,000 infants in the United States.*

PKU and other inherited metabolic disorders involving protein metabolism require lifelong management under medical supervision. Individuals with PKU must adhere to a diet that restricts phenylalanine, the amino acid that cannot be broken down. Phenylalanine is present in many foods we eat, including meat, beans, milk products, vegetables, breads, and pastas. Restriction of these foods often means individuals cannot get enough of the nutrients they need. Metabolic formulas are specifically designed to complement this restrictive diet. These formulas provide essential nutrients needed to support growth, development and normal body function, but do not contain phenylalanine since it cannot be broken down.

As a registered dietitian at Mead Johnson Nutrition, I am passionate about nourishing the world’s children for the best start in life. Through “A Child’s Best Start,” Mead Johnson’s global philanthropic program, we have helped children living with PKU in rural China get the care and nutrition they need to thrive. For nearly three years, we have worked with China’s Ministry of Health to support newborn screening programs and launch the PKU Special Milk Powder Subsidy Program that provides nutritional assistance and formula to children with PKU across the country who otherwise would not receive the necessary care.

It is important to continue building awareness of the benefits of newborn screening across the globe. In many cases, early detection and medically supervised management can significantly improve outcomes, helping infants and children grow into healthy adults.