Summary of Disorders Screened for by the Delaware Newborn Screening Program
| Disorder |
Analyte Measured |
Results If Untreated |
Treatment |
| Phenylketonuria (PKU) |
Phenylalanine level (Phe) |
Mental retardation, seizures |
Low phe diet |
| Congenital Hypothyroidism (CH) |
Thyroid stimulating hormone (TSH) |
Mental retardation, growth delay |
Thyroid hormone |
| Galactosemia |
Total galactose, galactosemia enzyme (GALT) |
Infection, cataracts, liver disease, mental retardation |
Galactose free diet |
| Congenital Adrenal Hyperplasia (CAH) |
17-alpha hydroxy progesterone (17-OHP) |
Electrolyte imbalance, shock, infant death |
Adrenal hormone replacement |
| Hemoglobinopathies (most important - Sickle Cell Disease) |
Hemoglobin isoelectric focusing |
Multiple medical conditions |
Antibiotic prohylaxis, specialized preventive health care |
| Medium Chain Acyl-CoA Dehyrogenase (MCAD) Deficiency |
Levels of fatty acid acylcarnitines - C8, C6, C10:1 |
Variable, but may include sudden death, seizures, neurologic syndromes |
Diet, avoiding fasts, certain medications |
| Other Fatty Acid Oxidation (FAO) disorders |
Levels and ratios of various fatty acid acylcarnitines |
Variable, but may include sudden death, seizures, neurolgic syndromes |
Diet, avoiding fasts, certain medications |
| Maple Syrup Urine Disease (MSUD) |
Blood levels of leucine/isoleucine |
Neonatal coma, seizures, acidosis, mental retardation |
Diet low in branched chain amino acids |
| Glutaric Aciduria I |
Acylcarnitine, C5-DC |
Seizures, athetosis, motor disability |
Diet, certain medications |
| Other Organic Acid disorders |
Specific acylcarnitines |
Variable |
Variable |
| Homocystinuria |
Methionine level |
Characteristic body habitus, eye anomalies, mental retardation, hypercoagulable |
Diet, medications |
| Other disorders of amino acid metabolism |
Blood arginine, tyrosine, citrulline |
Variable |
Diet, variable |
| Biotinidase Deficiency |
Biotinidase activity |
Seizures, rash, mental retardation, hearing loss |
High dose biotin |
