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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, avoidingfasts, 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 AciduriaI 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
Last Updated: Thursday January 28 2010
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