Newborn Screening
Disorders Tested
List of Disorders - April 21, 2006
Disorders detected by tandem mass spectrometry (MS/MS)
Amino Acid disorders
- Argininosuccinic aciduria (ASA)
- Citrullinemia (CIT I)
- Homocystinuria (cystathionine beta synthase) (HCY)
- Maple syrup urine disease / Branched-chain ketoacid dehydrogenase (MSUD)
- Phenylketonuria / Hyperphenylalaninemia (PKU)
- Tyrosinemia type II (TYR-II)
- Tyrosinemia type III (TYR-III)*
Organic Acid Disorders
- Glutaric acidemia type I (GA-I)
- Multiple carboxylase deficiency (MCD) *
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG) *
- Isobutyryl-CoA dehydrogenase deficiency (IBD)
- Isovaleric acidemia / Isovaleryl-CoA dehydrogenase deficiency (IVA)
- Beta-ketothiolase (BKT) / Short-chain keto acylthiolase deficiency (SKAT)
- Methylmalonic aciduria (MMA)
- 2-Methylbutyryl-CoA dehydrogenase deficiency (2-MBD)
- 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
- Propionic acidemia (PPA, PROP)
Fatty Acid Disorders
- Carnitine/acylcarnitine translocase deficiency (CAT) *
- Carnitine palmitoyltransferase II deficiency (CPT II)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Multiple acyl-CoA dehydrogenase deficiency (GA-II)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
- Trifunctional protein deficiency (TFP) *
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
Disorders detected by biochemical and other technologies
- Biotinidase deficiency (BIO)
- Congenital adrenal hyperplasia (CAH)
- Galactosemia/ galactose-1-phosphate uridyl transferase deficiency (GALT)
- Primary congenital hypothyroidism (CH)
- Hemoglobin C disease (FC)
- Hemoglobin E disease (FE)
- Sickle cell disease (FS, HB S/S)
- Sickle/hemoglobin C disease (FSC, HB S/C)
- Sickle/hemoglobin E disease (FSE, HB S/E)
* no cases yet detected by North Carolina Newborn Screening Laboratory
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See also:
- Newborn Screening
- Disorders Tested
- Conditions Tested
- Specimen Collection
- Reporting
- Screening Update
- Form Training
Last Modified: October 14, 2008 11:38 AM