Disorders on the Newborn Metabolic Screen
Inability to break down sugar in breast milk and most formulas
If your baby screens “at risk” for this condition, it could mean that he or she is missing the enzyme to completely break down lactose, the sugar that is in breast milk and in most regular formulas. This is different from lactose intolerance which causes an upset stomach. Lactose is broken down into galactose, and if your baby is missing the enzyme to break down galactose, this is called galactosemia. Unfortunately, galactosemia can be life-threatening, but it is easy to treat.
The goal of newborn screening is to identify babies with this condition early, so that proper treatment can be started to help keep them healthy. To learn more about galactosemia, please click on the link below.
Inability to break down different proteins
If your baby screens “at risk” for breaking down proteins, it could mean that he or she has an amino acid disorder, an organic acid disorder or a urea cycle disorder. All of these disorders indicate there is a problem breaking down some type of amino acid.
Amino acids are the building blocks that make up the proteins in the food we eat, and the formula/breast milk babies drink. When the body cannot use these amino acids properly, they can build up to dangerous levels in our body. Other dangerous substances, such as excess ammonia or organic acids, can build
up too. When this happens it can cause damage to a baby’s brain and other organs. Sometimes babies with these conditions will get sick very fast, but other times newborn babies appear very healthy and they do not show symptoms until they are a little older.
The goal of newborn screening is to identify babies with these conditions early, so that proper treatment can be started to help keep them healthy. To learn more about amino acid disorders, organic acid disorders and urea cycle disorders, please click on the link below.
Inability to break down different fats for energy
If your baby screens “at risk” for breaking down fats, it could mean that he or she has a fatty acid oxidation disorder. The body gets energy from the food we eat; it breaks down sugar, protein, and fat to make energy. The body typically breaks down sugar and protein first, and then starts to break down the fat. When a person/baby is not eating (fasting), the body must use the fat the body has stored up for energy. Individuals who have a fatty acid oxidation disorder have problems with an enzyme that help to break down their fat.
Babies who have a fatty acid oxidation disorder can get very sick very fast if they go too long without eating. Our bodies have different types of fat – very long chain, long chain, medium chain and short chain fats. Very long chain fats are broken down first and then long chain fats, etc. Babies who are missing
the enzyme to break down the very long chain fats will get sick faster than those who are missing the enzyme to break down short chain fats.
If your baby is not fasting, he/she may look very healthy and you may not know your baby has one of these conditions until it is too late. The goal of newborn screening is to identify babies with these conditions early, so that proper treatment can be started to help keep them healthy. To learn more about fatty acid oxidation disorders please click on the link below.
Presence of abnormal red blood cells or sickle cell disease
If your baby screens “at risk” for abnormal hemoglobin, it could mean that he or she has a form of sickle cell disease or another type of anemia. Hemoglobin is the part of our red blood cells that helps us carry oxygen to the parts of the body where it is needed. When people have problems with their hemoglobin their blood is not able to carry as much oxygen. If a person has sickle cell anemia, the blood cells can change shape and get stuck in smaller veins causing intense pain. Babies with sickle cell anemia also have a problem fighting off infections so they often get sick more than other children. The goal of newborn screening is to identify babies with these conditions so that they can get early treatment to help keep them healthy. To learn more about these specific disorders, please click on the link below:
Abnormal thyroid function (congenital hypothyroidism)
If your baby screens “at risk” for abnormal thyroid function he or she may have congenital hypothyroidism. The thyroid gland makes a hormone called Thyroxine that helps the body to grow and to help the brain develop normally. If your baby’s thyroid gland is not working properly, medication will be needed to help your baby grow and thrive. To learn more about congenital hypothyroidism, please click on the link below:
Abnormal adrenal glands (congenital adrenal hyperplasia)
If your baby screens “at risk” for abnormal adrenal function he or she may have congenital adrenal hyperplasia. The adrenal glands are small glands that sit on top of the kidneys and they help the body produce sex hormones and another hormone that helps maintain a good level of salt in the body. In this condition, some baby girls have genitals that look like a boy’s or the baby can get very sick very fast because they do not have enough salt in their body. Further testing is needed as soon as possible to determine if there is a problem. Since the adrenal glands also help us when we are stressed, some babies have “false elevations” because their delivery was a little difficult or they were sick. To learn more about this disorder please click on the link below:
Cystic fibrosis
If your baby screens “at risk” for cystic fibrosis, further testing called a sweat chloride test is needed. Cystic fibrosis is a condition in which the body can not move salt around the body very well. The extra salt can cause thick mucus to develop in the lungs. This thickened mucus makes it hard for babies to
breathe normally and puts them at increased risk for infections. The mucus can also cause blockages in the gut, which prevent a baby from being able to break down their food properly. When this happens, the baby cannot use the vitamins and nutrients properly and may not grow very well.
The goal of newborn screening is to identify babies with this condition early so they can get treatment to help with their lung function and to help them to break down their food. To learn more about this disorder, please click on the link below:
