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Information for Health Professionals

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 

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Last Updated: Friday January 16 2009
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