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

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