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    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.
     
    English: Galactosemia
    Español: Galactosemia
     

    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:
     
     

    Severe Combined Immunodeficiency Disorder

    If your baby screens “at risk” for severe combined immunodeficiency disorder, or SCID for short, your baby may have trouble fighting infections.  SCID is the name for a group of disorders that cause babies to be born without a working immune system.  Newborns with SCID may seem healthy at first because they are getting protection from the mother’s immune system for the first few weeks of life.  However, without treatment, common infections and vaccines can be life threatening for these infants.  Further testing is needed to determine if your baby may have trouble fighting infections.  To learn more about SCiD, please click on the link below
     
     

    Spinal Muscular Atrophy

    If your baby screens “at risk” for spinal muscular atrophy or SMA for short, your baby may be missing genes or parts of genes that help make SMN protein. This protein is important to keep motor neurons healthy and functioning well. Motor neurons carry signals back and forth between the brain and muscles.  Shortage of this protein leads to problems with motor neurons which results in signals not being transmitted between the brain and muscles. Muscles cannot contract without receiving signals from the brain, so many skeletal muscles become weak and waste away, leading to the signs and symptoms of spinal muscular atrophy.  Your baby needs further testing right away to determine if he/she has SMA.  Early treatment has been shown to be more effective in reducing the amount of muscle weakness.  To learn more about SMA, please click on the link below.
     
    English:  Spinal Muscular Atrophy         
    Espanol: atrofia muscular espinal   
     

    Pompe Disease (Glycogen Storage Disease Type II)

    If your baby screens “at risk” for Pompe disease, your baby make have a defect in the GAA gene.  GAA breaks down glycogen to glucose.  If glycogen cannot be broken down, it can build up in the cells causing swelling and damage to the cells.    There are several forms of the disorder but all of the forms are associated with progressive muscle weakness and can result in breathing and heart problems.  Screening “at risk” for Pompe does not necessarily mean your baby has Pompe.  Your baby needs further testing right away to determine if he/she has Pompe.  Early treatment has been shown to be more effective in reducing the amount of muscle weakness if your baby’s diagnostic testing confirms your baby has Pompe. To learn more about Pompe, please click on the link below.
     
    English:  Pompe
    Espanol: Pompe    
     

    Mucopolysaccharidoses Type I (MPS-I)

    If your baby screens “at risk” for MPS-I, your baby make have a defect in the gene that makes an enzyme called IDUA. This enzyme breaks down a very large sugar molecule into smaller molecules so the sugar can leave the lysosome, which is a special energy making part of the cell. If this very large sugar cannot leave the cells, the cells become enlarged and eventually become dysfunctional.   There are different forms of this disorder depending on how much IDUA enzyme is present.  The most severe form affects newborns, but other forms may not have symptoms until childhood.  Screening “at risk” for MPS-I does not necessarily mean your baby has MPS-I.  Your baby needs further testing to determine if he/she has MPS-I. To learn more about MPS-I, please click on the link below.
     
    English:  MPS-I
     

    Fabry Disease

    If your baby screens “at risk” for Fabry Disease, your baby make have a defect in the gene that makes an enzyme called GLA. This enzyme helps break down a type of lipid called glycosylsphingolipid so it can leave the lysosome, which is a special energy making part of the cell, and either be used for energy or discarded. These glycosylsphingolipids can build up in tissues throughout the body, especially in the kidneys, heart and brain.   There are different forms of this disorder depending on how much GLA enzyme is present.  The classic form of Fabry more common affects males with symptoms occurring in childhood or adolescence.  Females can have wide ranging clinical symptoms, ranging from no symptoms to severely affected.  Screening “at risk” for Fabry does not necessarily mean your baby has Fabry.  Your baby needs further testing to determine if he/she has Fabry. If your baby is confirmed to have Fabry, the genetics team will talk to you have testing other members in your family. To learn more about Fabry disease, please click on the link below.
     
    English:  Fabry
     
      
    updated 07/2019