Conditions included in the Ohio newborn screen

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)

Endocrine Disorders

• 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)
• X-Linked Adrenoleukodystrophy (X-ALD)

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
  • Cobalamin Disorders A and B (Cbl A,B)
  • Methylmalonyl-CoA Mutase Deficiency (MUT)
  • Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)
• 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.

Note: Specimens received between January 3, 2020 and January 18, 2020 were tested for LSD's by Perkin Elmer Genetics. The following chart outlines the reporting ranges for the testing performed by PerkinElmer Genomics.

Note: This test was developed and its performance characteristics determined by PerkinElmer Genetics, Inc. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. DNA testing is performed by PCR and allele specific hybridization. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity testing.

Other Disorders

• 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, and 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 were 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.

• Spinal Muscular Atrophy (SMA)  is a rare neuromuscular condition. Symptoms can appear in both males and females and may start within the first few months of life or may not appear for many years. If untreated, babies with severe infantile SMA will develop progressive muscle weakness during the first six months of life and die in childhood. Treatment given prior to the onset of muscle weakness can prevent disease progression. Gene therapy is currently the treatment of choice for SMA if diagnosed early. 

  Note: The test for SMA has not been cleared or approved by the FDA but the performance characteristics have been validated by the Ohio Department of Health Laboratory.