Argininemia

Argininosuccinic Acidemia

Biotinidase Deficiency

Carnitine/Acylcarnitine Translocase Deficiency

Carnitine Palmitoyl Transferase Deficiency Type II

Carnitine Uptake Defect

Citrullinemia

Congenital Adrenal Hyperplasia

Congenital Hypothyroidism

Cystic Fibrosis

Galactosemia

Glutaric Acidemia Type I

Glutaric Acidemia Type II

Homocystinuria

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Hypermethioninemia

Isobutyryl-CoA Dehydrogenase Deficiency

Isovaleric Acidemia

3-Ketothiolase Deficiency

Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency 

Maple Syrup Urine Disease (MSUD)

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

2-Methylbutryl-CoA Dehydrogenase Deficiency

3-Methylcrotonly-CoA Carboxylase Deficiency

Methylmalonic Acidemia 

Multiple CoA Carboxylase Deficiency

Phenylketonuria (PKU)

Propionic Acidemia 

Short Chain Acyl-CoA Dehydrogenase Deficiency

Sickle Cell Disease & Other Hemoglobinopathies (Sickle Cell Anemia, and S/beta Thalassemia)                                                                                                

Trifunctional Protein Deficiency

Tyrosinemia Type I, II and III 

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Disorders Screened For in Ohio

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 disabilities 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, Argininosuccinic Acidemia, Citrullinemia, Homocystinuria, Hypermethioninemia, Maple Syrup Urine Disease, Phenylketonuria (PKU), and Tyrosinemia.

Endocrine Disorders:

Congenital Adrenal Hyperplasia (CAH) occurs when the baby’s adrenal glands (stress glands) are unable to make certain hormones needed by the body.  In severe forms of CAH, problems with dehydration and low blood pressure or even death can occur. Medication may help prevent growth problems.

Congenital Hypothyroidism occurs when the baby’s body does not make enough thyroid hormone to keep the baby growing.  Medication may help prevent growth problems and developmental disabilities.

Fatty Acid Disorders:

This group includes conditions that interfere with the body’s ability to turn fat into energy.  This can cause seizures, extreme weakness and heart and breathing problems.  Special diets, eating frequently and medication may help prevent symptoms.  The Ohio program screens for the following fatty acid disorders: Carnitine/Acylcarnitine Translocase Deficiency, Carnitine Palmitoyl Transferase Deficiency Type II, Carnitine Uptake Defect, Glutaric Acidemia Type II, Long Chain Hydroxyacyl CoA Dehydrogenase Deficiency, Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD), Short Chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency, Very Long Chain Acyl-CoA Dehydrogenase Deficiency.

Organic Acid Disorders:

Babies with one of these disorders cannot remove certain waste products from their blood.  This can lead to vomiting, low blood sugar, coma or death.  Treatment may include a special diet and medication.  The Ohio program screens for the following Organic Acid Disorders: 2-Methylbutyryl- CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase  Deficiency, 3-Ketothiolase Deficiency, 3-Methylcrotonyl-CoA Carboxylase Deficiency, Glutaric Acidemia Type I, Isobutyryl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, Methylmalonic Acidemia, Multiple CoA Carboxylase Deficiency, Propionic Acidemia.

Other Disorders Screened for:

Biotinidase Deficiency 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 is an inherited disease of the lungs and digestive system that can cause recurring chest infections and malnourishment. Early detection may improve growth and decrease risk of infections.

The CFTR mutations screened for in Ohio newborn screening are:

^F508, G542X, G551D, R553X, N1303K, R117H, 621+1G->T, W1282X, 1717-1G->A, R1162X, 1898+1G->A, 2789+5G->A, 3120+1G->A, 3659delC, 3849+10kbC->T, R347P, G85E, Q493X, ^I507, 2183delAA->G, 2184delA, R560T, A455E, 3905insT, I148T, 394delTT, 711+1G->T, D1152H, E60X, M1101K, R347H, S549N, S549R, V520F, Y1092X, R334W, 1078delT, 3849+4A>G, 3876delA, D1270N, Y122X