The South Dakota Newborn Screening Program screens all babies born in South Dakota for the following metabolic disorders. If you have questions about these disorders, please ask you doctor for more information.
Amino Acid Disorders - Amino acid disorders (AA disorders) are conditions that limit the body’s ability to break down certain proteins. The body breaks down food and changes it into nutrients it can use. At the same time, the body gets rid of the chemicals it does not need. Enzymes (chemicals that cause reactions in the body to take place) usually help with this breakdown process. A person who has an AA disorder is missing one of several specific enzymes, or the enzyme is not working as well as it should. Each enzyme deficiency is associated with a different AA disorder. As a result of missing a critical enzyme, toxic chemicals (which are usually eliminated) build up in the body. This build-up causes serious damage to several organs. A special diet and medication can prevent some, but not all of the symptoms.
Biotinidase Deficiency - Babies with this problem do not have enough of the vitamin called biotin. Without this vitamin, the baby's growth and development will not be normal. A baby with biotinidase deficiency needs a medicine containing biotin and regular medical care.
Congenital Adrenal Hyperplasia (CAH) - Most babies with this problem do not have enough of the chemical 21-hydroxylase. Without 21-hydroxylase, a baby's growth and development will not be normal. A baby with CAH is given a medicine called hydrocortisone and needs regular medical care.
Congenital Hypothyroidism - A baby born with this problem does not make enough thyroid hormone. Thyroid hormone keeps a baby's body growing strong and healthy. Without it, poor physical and mental development can occur. This problem is treated with daily medicine to replace the hormone and regular medical care.
Cystic Fibrosis - Cystic fibrosis is one of the most common of serious inherited disorders present in children. It can occur in all races. The overall prevalence in the United States is 1 in 3,700 births. Children who have cystic fibrosis are born with the disorder but often do not show visible signs of disease for weeks, months, or even years. In this disorder, there are abnormal amounts of salt in body secretions, especially in the lungs and pancreas. In some people, the signs appear mainly in the lungs. In other people, the signs are mainly in the digestive system. In the lungs, airways become blocked and have too many bacteria, leading to chronic infections, lung damage and death from lung failure. In the pancreas, when ducts are blocked there is a loss of digestive enzymes in the bowel, which leads to severe malnutrition. Medical treatment can include replacing digestive enzymes right away, use of antibiotics, and careful monitoring. This may improve growth and the long-term outcome in these patients.
Fatty Acid Oxidation Disorders - Fatty acid oxidation disorders (FAO disorders) are conditions that limit the body’s ability to make energy, especially if that person has not eaten for some time. The body breaks down food into energy. Some of the energy is needed right away while some of it is stored for later use. If a person has not eaten for a period of time, the body starts to use the stored energy. Children with FAO disorders cannot access this stored energy. Enzymes (chemicals that cause reactions in the body to take place) usually help to access stored energy. A person who has an FAO disorder is missing one or more of several specific enzymes, or the enzyme is not working as well as it should. Each enzyme deficiency is associated with a different FAO disorder. Frequent feedings and immediate care for any illness can prevent most of the problems associated with FAO disorders.
Galactosemia - A baby with this problem cannot digest the sugar galactose. If not treated, galactose will build up in the body causing damage to the eyes, liver and brain. Babies with galactosemia must not have foods containing galactose or lactose, including breast milk and some infant formulas. Treatment includes a special diet and regular medical care.
(GSD II) Glycogen Storage Disease Type II (Pompe) - Pompe Disease is an inherited autosomal recessive condition that results in progressive myopathy of both skeletal and cardiac muscle. In the infantile-onset form, severe symptoms may be present within two weeks of life and most children are symptomatic by one year of age. Late-onset Pompe includes infants less than twelve months old without cardiomyopathy or children with symptoms starting after they are one year old. Newborn screening for Pompe involves the measurement of acid-a-glucosidase (GAA) enzyme activity using Flow Injection Analyses-Tandem Mass Spectrometry (FIA-MS/MS). A screen-positive result for Pompe is detected by a low or absent activity of the GAA enzyme, the biomarker for Pompe disease. Pompe disease is treated Enzyme replacement therapy (ERT) is an approved treatment for all Pompe patients. A drug called alglucosidase alfa is given intravenously (through the patient's vein). It is a genetically engineered enzyme that acts like the naturally occurring acid alfa glucosidase enzyme.
Organic Acidemia Disorders - Organic acidemias are a group of conditions caused by the body’s inability to break down certain proteins. The body breaks down or metabolizes food. This process changes the food into nutrients the body can use and gets rid of the chemicals it does not need. Enzymes (chemicals that cause reactions in the body to take place) usually help with this breakdown process. A person who has organic acidemia is missing one of several specific enzymes, or the enzyme is not working as well as it should. Each enzyme deficiency is associated with a different organic acidemia. As a result of missing a critical enzyme, toxic chemicals (which are usually eliminated) build up in the body. This build-up causes serious damage to several organs. A special diet and medication can prevent some, but not all of the symptoms.
Phenylketonuria (PKU) - Babies with PKU do not have the chemical needed to digest phenylalanine. Phenylalanine is found in foods with protein. If not treated, PKU can lead to brain damage and learning problems. A baby with PKU is given a special formula and needs to receive regular medical care.
Sickle Cell Disease - Healthy red blood cells are shaped like a donut. With sickle cell disease, some red blood cells are sickle-shaped like a banana. These cells can become trapped in blood vessels causing pain, discomfort, or damage. Babies with sickle cell disease are more likely to develop severe infections.
Treatment includes medications to lower this risk of infection such as penicillin and special vaccines. If needed, treatment may also include medications for pain. Babies with sickle cell disease also need regular medical care.
The newborn screen for sickle cell disease may also find other changes in red blood cells that may or may not need treatment.
Severe Combined Immunodeficiency (SCID) - An inherited condition in which the body is unable to fight off serious and life-threatening infections. The immune system is made up of different parts that work together to keep the body from getting sick. In a baby with SCID, certain parts of the immune system do not work properly. This puts the baby at risk of getting many infections. Children that do not get treatment for SCID rarely live past the age of two. However, when SCID is identified and treated before the baby gets an infection, those children can live longer and healthier lives.
Spinal Muscular Atrophy (SMA) is caused by a mutation in the Survival Motor Neuron 1 (SMN1) gene. SMN1 is needed for normal development and maintenance of motor nerve cells located in the brainstem and spinal cord. In people that have an SMN1 mutation, motor nerve cells do not function properly and eventually die. Loss of motor neurons leads to progressive skeletal muscle weakness which includes breathing and swallowing. Early treatment of babies with infantile-onset SMA is needed to avoid progressive muscle weakness and respiratory failure. Without treatment, the infantile form of SMA typically leads to death in the first two years of life. Untreated later-onset forms of SMA lead to physical disability due to progressive muscle weakness.