Parents and Patients
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
Amino acids are the building blocks that make up the proteins in food. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing or non-working enzymes, people with amino acid disorders cannot process certain amino acids. Some disorders are caused by the body’s inability to use a single amino acid or a group of amino acids. Since the body can’t use them properly, these amino acids can build up to dangerous levels in the body and can damage the brain or the liver or other organs. With some disorders, the baby will get very sick very fast but with other disorders, the problem would not be noticed until the parents see that the baby is not developing properly. The symptoms and treatment vary between different amino acid disorders.
The amino acid disorders included in Potchefstroom Newborn Screening Program are:
Organic acid disorders (OAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. A number of enzymes are needed to process protein from the food we eat for use by the body. Problems with one or more of these enzymes can cause an organic acid disorder. People with organic acid disorders cannot break down protein properly. This causes harmful substances to build up in their blood and urine. These substances can affect health, growth and learning. The symptoms and treatment vary between different organic acid disorders. They can also vary from person to person with the same organic acid disorder. See the fact sheets for each specific organic acid disorder.
The organic acidurias in the Potchefstroom Newborn Screening Program include:
All amino acids contain the element nitrogen. The body must dispose of nitrogen or it will build up as ammonia in the blood and make the baby very sick. The body disposes of nitrogen by changing it into a substance called urea, which leaves the body through the kidney in the urine. Problems in disposing of nitrogen are called Urea Cycle Disorders.
The urea cycle disorders included in the Potchefstroom Newborn Screening Program are:
The body usually gets energy from sugar, amino acids and fat. The body uses the sugar first. When the sugar is gone the body can make a little more sugar from any spare amino acids (from proteins). But when the sugar is all used up, the body must use the fat. This is especially necessary when the baby is not eating (fasting). The enzymes needed to get energy from fats are different from those used to get energy from sugars. A number of enzymes are needed to break down fats in the body (a process called fatty acid oxidation). Problems with any of these enzymes can cause a fatty acid oxidation disorder. People with FAODs cannot properly break down fat from either the food they eat or from fat stored in their bodies. Energy is released from fats by a process called oxidation. Problems in getting energy from fats are called Fatty Acid Oxidation Disorders.
The fatty acid oxidation disorders in the Potchefstroom Newborn Screening Program include:
- Carnitine Uptake Disorder
- Carnitine Palmitoyl Transferase I Deficiency (CPT I Deficiency)
- Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
- Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or Glutaric Acidemia II)
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
Milk is a baby’s first food. The Newborn Screening Program finds babies who can’t use galactose, one of the sugars in milk. This disorder known as Galactosemia can be caused by a lack of any of 3 enzymes.
Cystic fibrosis (CF) is a disorder inherited from both parents in which salt and water movement into and out of cells is not normal. This leads to increased salt in the sweat that can be measured to diagnose CF. There is also thicker than normal mucus. This leads to chronic lung infections, digestion problems, and poor weight gain. The name cystic fibrosis refers to changes in the pancreas from mucus obstruction.