Conditions included in the Ohio newborn screen
Links to condition specific information compliments of Baby's First Test, a national clearinghouse for information about Newborn Screening.
Amino Acid Disorders
These conditions are caused by a problem with the body’s ability to properly use certain amino acids found in food. Poisonous chemicals build up in the body starting soon after birth and can damage the brain and other organs. Developmental delay and other health problems may occur. Special diets or supplements may help treat these problems. The Ohio program screens for the following amino acid disorders:
- Argininemia (ARG)
- Argininosuccinic Acidemia (ASA)
- Citrullinemia Type I (CIT) and Citrullinemia Type II (CIT II)
- Homocystinuria (HCY)
- Hypermethioninemia (MET)
- Maple Syrup Urine Disease (MSUD)
- Phenylketonuria (PKU)
- Tyrosinemia Type I (TYR I), Type II (TYR II) and Type III (TYR III)
Congenital Adrenal Hyperplasia (CAH) occurs when the baby’s adrenal glands are unable to make certain hormones needed by the body. In the severe form of CAH dehydration, low blood pressure, and in rare cases, death can occur. Early identification and treatment may help prevent medical complications.
Primary Congenital Hypothyroidism occurs when the baby’s body does not make enough thyroid hormone to help the baby grow and develop. Medication may help prevent growth problems and developmental disabilities.
Fatty Acid Disorders
Fatty Acid Disorders interfere with the body’s ability to turn fat into energy. This can cause low blood sugar, seizures, extreme weakness, difficulty breathing, and heart damage. Special diets, eating frequently and medication may help prevent symptoms. The Ohio program screens for the following fatty acid disorders:
- Carnitine Acylcarnitine Translocase Deficiency (CACT)
- Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
- Carnitine Uptake Defect (CUD)
- Glutaric Acidemia Type II (GA-2)
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
- Trifunctional Protein Deficiency (TFP)
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
Organic Acid Disorders
Organic Acid Disorders interfere with the body’s ability to remove certain waste products from their blood. This can lead to vomiting, low blood sugar, coma or death. Special diets, eating frequently and medication may help prevent symptoms. The Ohio program screens for the following Organic Acid Disorders:
- 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG)
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
- 3-Ketothiolase Deficiency (BKT)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- Glutaric Acidemia Type I (GA-1)
- Isobutyryl-CoA Dehydrogenase Deficiency (IBG)
- Isovaleric Acidemia (IVA)
- Methylmalonic Acidemia
- Multiple CoA Carboxylase Deficiency (MCD)
- Propionic Acidemia (PROP)
Lysosomal Storage Diseases
Lysosomal storage diseases occur when the body does not make an enzyme needed to break down large molecules into smaller, useable substances. The large molecules build up in the cells and can causes damage to the brain, heart, bones, liver and other organs. Treatment may include enzyme replacement and bone marrow stem cell transplant.
- Krabbe Leukodystrophy
- Glycogen Storage Disease Type II (Pompe Disease)
- Mucopolysaccharidosis type I (MPS I)
Note:The test for Lysosomal Storage Diseases has not been cleared or approved by the FDA but the performance characteristics have been validated by the Ohio Department of Health Laboratory.
Biotinidase Deficiency (BIOT) occurs when a baby’s body cannot properly use the vitamin biotin. Problems with skin rashes, seizures, hearing loss or mental retardation may be prevented by adding extra biotin to the diet.
Cystic Fibrosis (CF) is a chronic medical condition affecting the lungs and digestive system. It can cause recurring chest infections and malnourishment. Early detection may improve growth and decrease risk of infections.
The CFTR mutations included in Ohio newborn screening as of April 1, 2016: 1078delT 1717-1G>A 1898+1G>A 1898+5G>T 2183AA>G 2184delA 2307InsA 2789+5G>A 3120+1G>A 3659delC 3849+10kbC>T 3876delA 3905insT 394delTT 621+1G>T 711+1G>T A455E A559T delta F508 delta I507 G542X G551D G85E M1101K N1303K R1162X R117H IVS8 5T/7T/9T R334W R347H R347P R553X R560T S1255X S549N S549R V520F W1282X Y1092X Y122X
Note:The test for some of the mutations has not been cleared or approved by the FDA but the performance characteristics have been validated by the Ohio Department of Health Laboratory
Note: CFTR mutational analysis for Ohio newborn screening specimens received by the Ohio Department of Health Laboratory between March 31, 2016 and August 23, 2016 was performed at the Wadsworth Center/NBS Program, David Axelrod Institute, 120 New Scotland Avenue, Albany, NY 12208.
Galactosemia (GALT) occurs when the baby’s body cannot break down a sugar called galactose occurring in milk and other foods. Developmental delay, liver damage, cataracts and slow growth may occur if left untreated. A special diet without galactose may help prevent symptoms.
Severe Combined Immunodeficiency (SCID) includes a group of rare but serious immune disorders. The baby’s body is unable to make certain cells that protect the body from infection. Untreated infants develop life-threatening infections due to bacteria, viruses and fungi. Treatment can reduce the threat of infections.Note:The test for TREC used as a marker for SCID has not been cleared or approved by the FDA but the performance characteristics have been validated by the Ohio Department of Health Laboratory.
Sickle Cell Disease (Hb SS) and other Hemoglobinopathies (e.g. SC Disease, Sickle Beta-Thalassemia) are disorders that affect red blood cells. Some of these disorders can cause anemia, severe pain, frequent infections, other serious health problems or even death. Taking antibiotics and other medications daily greatly lowers the chance of infection and other problems.