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Potchefstroom Newborn Screening Program
This program identifies and follows-up on newborn babies with rare and serious disorders of body chemistry. Most of these disorders cause mental retardation or severe medical problems unless treated right away. Treatment for some disorders is very effective and babies that are treated do very well. We follow the babies who actually do have one of these disorders long term, providing case management and working with the babies’ doctors, as well as providing counseling, health education and family support to affected families.

What is a disorder of body chemistry?
The body uses the foods we eat to make energy and to grow and build body tissues, like muscle, brain, blood and bone. In order to do this the body must convert one naturally occurring substance or chemical to another. This is a complicated process. The body does this in a series of steps. The body uses natural helper chemicals, called enzymes, to perform each step of the conversion. Most disorders of body chemistry are caused by the lack of an enzyme. The body uses the proteins (made up of amino acids), fats, and carbohydrates (sugars and starches) in food to make energy. The body may have problems using any one of these substances. Something can go wrong at each step of the process. The body also has to transport substances around the body and in and out of cells. Something can go wrong in these processes as well. The Newborn Screening Program looks for babies with several groups of disorders of body chemistry.

Disorders Involving Amino Acids – Amino Acid Disorders, Organic Acidurias and Urea Cycle Disorders