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Delaware Newborn Screening


Metabolic Disorders

  • TRADITIONAL DISORDERS
    1. CH - Congenital Hypothyroidism
    2. CAH - Congenital Adrenal Hyperplasia
    3. GAL - Galactosemia
    4. HGB - Hemoglobinopathies - SS Disease, SC Disease, Variant Hgb
    5. BIOT - Biotinidase Deficiency
    6. CF - Cystic Fibrosis
  • AMINO ACID/UREA CYCLE DISORDERS (MS/MS)
    1. PKU - Phenylketonuria
    2. HPHE - Hyperphenylalanemia
    3. MSUD - Maple Syrup Urine Disease
    4. HCYS - Homocystinuria
    5. HMET - Hypermethioninemia
    6. TYR - Tyrosinemia, Type I
    7. TYR - Tyrosinemia, Type II
    8. TYR - Tyrosinemia, Type III
    9. ARG - Argininemia
    10. ASL - Argininosuccinate Lyase Deficiency
    11. CIT - Argininosuccinate Synthetase Deficiency (Citrullinemia)
  • ORGANIC ACID DISORDERS (MS/MS)
    1. GA-1 - Glutaric Acidemia, Type I
    2. PA - Proprionic Acidemia
    3. MMA - Methylmalonic Acidemia
    4. MCD - Multiple Carboxylase Deficiency
    5. IVA - Isovaleric Acidemia
    6. 2-MBCD - 2-Methylbutyryl-CoA Dehydrogenase Deficiency
    7. 3-MCC - 3-Methylcrotonyl-CoA Carboxylase Deficiency
    8. HMG - 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    9. BKT - Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
    10. IBCD - Isobutyryl-CoA Dehydrogenase Deficiency
  • FATTY ACID OXIDATION DISORDERS (MS/MS)
    1. MCAD - Medium Chain Acyl-CoA Dehydrogenase Deficiency
    2. CPT II - Carnitine Palmitoyltransferase II Deficiency
    3. CAT - Carnitine/Acylcarnitine Translocase Deficiency
    4. GA II - Glutaric Acidemia, Type II
    5. MADD - Multiple Acyl-CoA Dehydrogenase Deficiency
    6. SCAD - Short-Chain Acyl-CoA Dehydrogenase Deficiency
    7. LCHAD - Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency
    8. TFP - Trifunctional Protein Deficiency
    9. VLCAD - Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
    10. CUD - Carnitine Uptake Deficiency
  • OTHER
    1. NH - Newborn Hearing Screening
    2. SCID - Severe Combined Immunodeficiency
    3. CCHD - Critical Congenital Heart Disease (January 2013)

Abnormal Results Cut-Off Values



Estimated Frequency per Live Births of Disorders Screened for by
Delaware Newborn Screening Program
Disorder Frequency
Phenylketonuria (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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