The Illinois newborn screening panel currently includes the following endocrine, hemoglobin and metabolic disorders. While neonatal screening is effective in detecting many of these disorders in asymptomatic infants, some forms and genotypes of the disorders are not reliably detected by neonatal screening or are extremely rare in the Illinois newborn population.
| Endocrine Disorders |
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Congenital adrenal hyperplasia (CAH)
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Congenital hypothyroidism |
| Hemoglobinopathies |
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Sickle cell disease and other sickling hemoglobinopathies |
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Alpha and βeta thalassemia |
| Metabolic Disorders |
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Biotinidase deficiency
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Cystic fibrosis (CF) |
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Galactosemia |
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Amino acid disorders |
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Phenylketonuria (PKU) / Hyperphenylalaninemia |
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Maple syrup urine disease (MSUD) |
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Tyrosinemia, type 1 and possibly type 2 or type 3 - tyrosine levels may not be sufficiently elevated for detection |
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Homocystinuria / Hypermethioninemia |
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5-oxoprolinuria (glutathione synthetase deficiency) - may not be reliably detected in first days of life |
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Urea cycle disorders |
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Citrullinemia (argininosuccinate synthetase deficiency) |
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Argininosuccinic aciduria (argininosuccinate lyase deficiency) |
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Argininemia - extremely rare |
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Organic acid disorders |
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2-methylbutyryl-CoA dehydrogenase deficiency (2MBD)
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3-methylcrotonyl-CoA carboxylase deficiency (3MCC) |
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3-hydroxy-3-methylglutaric-CoA lyase deficiency (3HMG) |
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3-methylglutaconic aciduria (3MGA) |
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Glutaric aciduria, type 1 (GA1) |
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Propionic acidemia (PA) |
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Isovaleric acidemia (IVA) |
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Methylmalonic acidemia (MMA) |
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Malonic aciduria (MA) - may not be reliably detected in first days of life |
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Beta-ketothiolase deficiency (BKT) |
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Multiple carboxylase deficiency (MCD) |
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Fatty acid oxidation disorders |
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Short chain acyl-CoA dehydrogenase deficiency (SCAD)
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Medium/Short chain L-3-hydroxyacyl-CoA-dehydrogenase deficiency (M/SCHAD) |
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Isobutyryl-CoA dehydrogenase deficiency (IBCD) |
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Medium chain acyl-CoA dehydrogenase deficiency (MCAD) |
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Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) |
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Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) |
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Trifunctional protein deficiency (TFPD) |
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Carnitine palmitoyl transferase deficiency type 2 (CPT2) - neonatal form, extremely rare |
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Carnitine palmitoyl transferase deficiency type 1 (CPT1A) - may not be reliably detected in first days of life |
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Carnitine/acylcarnitine translocase deficiency (CACT) - neonatal form, extremely rare |
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Carnitine uptake defect (CUD) - may not be reliably detected in first days of life |
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Multiple acyl-CoA dehydrogenase deficiency (MADD) / Glutaric aciduria, type 2 (GA2) |
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Lysosomal storage disorders
(Statewide screening of newborns for lysosomal storage disorders is scheduled to begin in 2014.) |
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Fabry Disease |
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Gaucher Disease |
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Krabbe Disease |
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MPS 1 (Hurler Syndrome) |
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Niemann Pick Disease |
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Pompe Disease |
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Severe combined immune deficiency |
