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MPHL : disorders

List of Disorders on the Newborn Screen

Endocrine Disorders

The endocrine system is important to regulate the hormones in our bodies. Hormones are special signals sent to various parts of the body. They control many things such as growth and development. The goal of newborn screening is to identify these babies early so that treatment can be started to keep them healthy. To learn more about these specific disorders please click on the name of the disorder below:

Hematologic Conditions

Hemoglobin is a special part of our red blood cells. It is important for carrying oxygen to the parts of the body where it is needed. When people have problems with their hemoglobin they can have intense pain, and they often get sick more than other children. Over time, the lack of oxygen to the body can cause damage to the organs. 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, lease click on the name of the disorder below:

Enzyme Deficiencies

Enzymes are special proteins in our body that allow for chemical reactions to take place. Enzymes are necessary for proper body function and play an important role in growth and development. To learn more about these specific disorders, lease click on the name of the disorder below:

Cystic Fibrosis

Cystic Fibrosis is a condition caused when the body has problems moving around salt and chloride ions (Ions are chemicals important for specific body functions, like moving water around in the body). These problems with ion movement can cause a baby to build up thick mucus in their 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 have growth and weight gain problems. 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 these specific disorders, lease click on the name of the disorder below:

Amino Acid Disorders

Amino acids are the building blocks that make up the proteins in the food we eat, and the formula/breast milk babies drink. Some medical conditions can occur because the body cannot use these amino acids properly. This can cause them to build up to dangerous levels in our body. 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 these specific disorders please click on the name of the disorder below.

 

Organic Acid Disorders

Organic Acid disorders are caused when the body cannot break down the protein in our food correctly because there is a problem with an enzyme. (Enzymes help our body to perform chemical reactions, like breaking down our food). When a person cannot break down their protein correctly, harmful substances can build up in the blood and the urine. 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 these specific disorders please click on the name of the disorder below.

Fatty Acid Oxidation Disorders

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. (Enzymes help our body to perform chemical reactions, like breaking down our food). When the body cannot use it’s extra fat for energy, the body has no other way of getting energy. Without this energy a person cannot survive. Babies who have a fatty acid oxidation disorder can get very sick very fast if they are not given some type of food or nutrient for energy. 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 these specific disorders please click on the name of the disorder below.

Urea Cycle Disorders

The urea cycle is an important cycle that the cells in the body use to get rid of a chemical called ammonia; ammonia builds up as a result of the food we eat. Normally, the body uses the cycle to remove this extra ammonia and we get rid of it when we use the bathroom. Children that have urea cycle disorders cannot get rid of the extra ammonia. 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. Newborn screening cannot detect all urea cycle disorders. To learn more about these specific disorders please click on the name of the disorder below.