Newborn Screening Panel

Phenylketonuria (PKU)

Babies with this disease can not process the amino acid called phenylalanine. Phenylalanine builds up in the body and causes brain damage. PKU occurs in approximately 1 in every 19,000 newborns. Unless it is treated early with a special diet, PKU leads to severe mental retardation. Persons of European descent have a higher risk.

Homocystinuria

Homocystinuria occurs in one of every 344,000 births. Affected babies do not have the enzyme to break down a substance called methionine. It can cause mental retardation, eye problems osteoporosis, and stroke. Homocystinuria is treated with a special diet, vitamins B6 and B12, and other supplements.

Argininosuccinic Aciduria (ASA)

Argininosuccinic Aciduria occurs in one of every 70,000 births. A baby with ASA is missing an enzyme that is needed to remove ammonia from the blood. If it is not treated early, ammonia builds up in the body and causes brain damage and sometimes death. ASA is treated with a low-protein diet, medications to prevent ammonia build-up, dietary supplements, and in some cases, liver transplant. Affected persons must not go for long periods without eating.

Maple Syrup Urine Disease (MSUD)

MSUD occurs in about one of every 180,000 births. Babies with MSUD can not process three specific amino acids found in proteins. The disease gets its name from the fact that the baby’s urine smells like maple syrup. MSUD can cause mental retardation and death. It is treated with a low-protein diet and sometimes with the vitamin, thiamine.

Citrullinemia

Citrullinemia occurs in approximately one of every 70,000 births. Babies with this disease can not remove ammonia from their blood and as a result develop seizures, brain damage, and death. Babies can develop normally if they are treated early with a low-protein diet, medications to prevent ammonia build-up and dietary supplements. 

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

MCAD occurs in one of every 20,000 births. Babies with this disease can not change fat into energy. If this problem is not found and treated early, it can cause seizures, liver failure, coma and death. MCADD is treated with dietary supplements and persons with this disease must avoid going for long periods without food. MCAD is the most common of the fatty acid oxidation disorders, with about one affected baby in every 10,000 to 20,000 births.

LCHAD and VLCAD are rare disorders with about one in every 100,000 newborns affected

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)

Trifunctional protein deficiency (TFP)

Carnitine uptake defect (CUD)

Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a collection of inherited conditions that affect the body’s adrenal glands, which are the cone-shaped organs that sit on top of the kidneys. In a person with CAH, the adrenal glands are very large and are unable to produce certain chemicals, including cortisol, a chemical that helps protect the body during stress or illness and helps the body regulate the amount of sugar in the blood. Left untreated, the adrenal glands produce too much of chemicals called androgen, which produce male sex traits. Early detection and treatment can help children with CAH to have a normal and healthy development.

Congenital Hypothyroidism (CH)

Congenital Hypothyroidism (CH) is a condition that affects the body’s thyroid gland, a small organ in the lower neck. People with CH are unable to produce enough thyroid hormone, a chemical that is essential for healthy growth and development. If left untreated, CH can cause sluggishness, slow growth, and learning delays. However, if detected early and treatment is begun, individuals with CH often can lead healthy lives.

Sickle Cell Disease (SCD)

SCD is a blood disease that causes episodes of severe pain, damage to vital organs such as the lungs and kidneys, and sometimes death. About 1 in every 2,500 newborns has a form of SCD. Persons of African or Mediterranean descent have a higher risk. Children with SCD can get serious bacterial infections such as pneumonia or meningitis. Treatments differ according to the severity of symptoms but may include pain medications, penicillin, and blood transfusions.

• Sickle cell anemia (Hb SS)
• Hb S/ß-thalassemia (Hb S/ßTh)
• Hb S/C disease (Hb S/C)

Severe Combined Immunodeficiency (SCID)

Severe combined immunodeficiency (SCID) is an inherited condition in which the body is unable to fight off serious and life-threatening infections. Your body’s 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 who 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. 

Cystic Fibrosis (CF)

Cystic fibrosis (CF) is an inherited disorder of the mucus glands. Mucus is a slippery substance your body secretes to cover and protect the lungs, digestive system, reproductive system, and other organs and tissues. CF causes the body to produce excess mucus that is abnormally thick and sticky, which can lead to a variety of health problems. If left untreated, CF can cause serious lifelong health problems that could lead to early death. However, if the condition is identified early and proper treatment is begun, many of the symptoms of CF can be controlled and children can live longer healthier lives.

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a group of inherited conditions that affect the motor neurons of the spinal cord. Motor neurons are specialized nerve cells that control the muscles used for activities such as breathing, crawling, and walking. In people affected by SMA, the loss of motor neurons leads to progressive muscle weakness and atrophy (wasting).

There are four primary forms of SMA which are classified based on the severity of the condition and the age at which symptoms begin. The symptoms and long-term outlook of each form vary widely. In general, forms of SMA with an earlier age of onset are more severe and have a greater impact on motor function. Early detection and treatment of SMA are important since studies suggest that therapy is most effective when started in the first few months of life.

Mucopolysaccharidosis Type-I (MPS I)

Mucopolysaccharidosis type I (MPS I) is an inherited condition that affects many different parts of the body. It is considered a lysosomal storage disorder because people with MPS I have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars. This causes undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms.

Based on the current understanding of the enzyme and its gene, MPS I comprises a wide spectrum of severity and individuals may be categorized anywhere from severe to attenuated (less severe). Along with the age of onset, the symptoms and long-term outcomes within the spectrum of disease vary widely. For some babies with MPS I, detecting the condition early and beginning proper treatment may help prevent or delay some of the severe health outcomes associated with the condition.

Glycogen Storage Disease type II (Pompe)

Pompe is an inherited condition that affects many different parts of the body. It is considered a lysosomal storage disorder because people with Pompe have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars. This causes undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms.

There are two major forms of Pompe that differ in regard to disease severity and age of onset. Infantile-onset Pompe is the most severe form and requires immediate treatment. Late-onset Pompe is less severe and can present at any age, but may not require treatment right away. The symptoms and long-term outcomes of each form vary widely. For the best possible outcome, it is important to detect Pompe early and begin proper treatment immediately.

Biotinidase Deficiency

Biotinidase deficiency screening is done by a colorimetric assay. The activity of the enzyme biotinidase, which is reduced in infants with this disorder, is measured. A diminished color in the processed blood specimen indicates that the infant may have biotinidase deficiency. 

Galactosemia (GAL)

Babies with GAL do not have the liver enzyme they need to break down the milk sugar galactose. GAL occurs in about 1 in 50,000 newborns and it can lead to blindness, liver damage, mental retardation, and death. It is treated by removing galactose from the diet, usually by using soy instead of dairy products. There are also less severe forms of galactosemia that may not need any treatment.