Information on Disorders
Estimated Frequency per Live Births of Disorders Screened for by Delaware Newborn Screening Program
| Disorder |
Frequency |
| Phenyketonuria (PKU) |
1:15,000 |
| Congenital Hypothyroidism (CH) |
1:4,000 |
| Galactosemia |
1:45,000 |
| Hemoglobinopathies |
1:400 (African Ancestory) |
| Congenital Adrenal Hyperplasia (CAH) |
1:12,000 |
| Medium Chain Acyl CO-A Dehydrogenase Deficiency (MCAD) |
1:15,000 |
| Other Fatty Acid Oxidation (FAO) Disorders |
1:15,000 |
| Maple Syrup Urine Disease (MSUD) |
1:40,000 |
| Homocystinuria |
1:70,000 |
| Certain other disorders of amino acid metabolism (not including Ornithine Transcarbamylase Deficiency
(OTC) 1 |
1:20,000 |
| Glutaric Aciduria 1 |
1:100,000 (higher in Amish) |
| Other Organic Acid Disorders |
1:20,000 |
| Biotinidase Deficiency |
1:60,000 |
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