chca/dphnsp3 ~ Information of NSP Disorders – Delaware Health and Social Services – State of Delaware


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)
    4. MPS-I – Mucopolysaccharidosis Type I
    5. Pompe – Glycogen Storage Disease Type II
    6. X-ALD – X-linked Adrenoleukodystrophy
    7. SMA – Spinal Muscular Atrophy
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
Severe Combined Immunodeficiency (SCID)  1:100,000
Mucopolysaccharidosis Type I (MPS-I)  1:100,000
Glycogen Storage Disease Type II (Pompe)  1:40,000
X-linked Adrenoleukodystrophy (X-ALD)  1:50,000
Spinal Muscular Atrophy (SMA)  1:10,000