The Tests That Babies Need

Summary: This article, by Jane E. Brody, is about the screening of newborn babies for inherited and congenital disorders. One of the disorders mentioned was a metabolic disorder called phenylketonuria, also known as PKU. Kids with PKU are missing an essential enzyme. PKU causes damaged to the brain such as mental retardation and physical disabilities, and to prevent those things from happening one must be on a special protein free diet. In this article, both a story about how a screening saved a child's life and one about how the lack of a screening lost a child's life are mentioned. Gina Swift, currently a 5th grader from California, was found to have an inherited metabolic disorder called 3-MCC as a result of being screened as a newborn. This disorder causes the person affected to be unable to process the amino acid leucine, resulting in brain damage. Kaylin Peters, unfortunately, had a major heart defect that wasn't found at birth. This resulted in death. Many people are working hard to ensure that all screenings will be mandatory so many lives will be saved and bettered.

Relevance: In class, some of the things we have been learning about include enzymes, proteins, and amino acids. The metabolic disorder called PKU relates to those topics because it is a disorder that causes the person affected to be lacking an enzyme that converts the amino acid phenylalanine to tyrosine. An enzyme is a catalyst, meaning it helps speed up chemical reactions. Since the enzyme is missing, there is nothing to start the chemical reaction to convert the phenylalanine to tyrosine. This is what causes the brain damage. 3-MCC also relates to amino acids, and similar to PKU this condition causes unprocessed amino acid buildup which then results in brain damage.

Author: Jane E. Brody

Published: October 14, 2013

URL: http://well.blogs.nytimes.com/2013/10/14/the-tests-that-babies-need/