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Table 1

METABOLIC SCREENING IN THE NEWBORN

Volume 19, Issue 3, 2003
 

Disorders of metabolism detected by MS/MS newborn screening (4/20/99 until 4/15/01)6,7

 
 Fatty acid oxidation Organic acid metabolism Amino acid metabolism
     

MCAD (medium chain acyl-CoA dehydrogenase) deficiency (21)

VLCAD(very long chain acyl-CoA dehydrogenase) deficiency (1)

SCAD (short chain acyl-CoA- dehydrogenase) deficiency (3)

GA (glutaric acidemia) type II*

CPT II (carnitine palmitoyl transferase II) Deficiency*

LCHAD/TFP ( long chain 3-hydroxylacyl-CoA dehydrogenase) deficiency*

 

3-MCC (3-methyl crotonyl-CoA  carboxylase) deficiency (7)

Propionic acidemia (1)

Methylmalonic acidemia (2)

Glutaric acidemia, type I (1)

β-ketothiolase (SKAT or mitochondrial acetoacetyl-CoA thiolase) deficiency (1)

Isobutyryl-CoA dehydro-genase deficiency (1)

2-methylbutyryl-CoA dehydrogenase deficiency (1)

Isovaleryl-CoA  dehydrogenase deficiency (3)

Malonic Acidemia*

Phenylketonuria (14)

Argininosuccinic acid lyase deficiency*

Citrullinemia (1)

MSUD* (Maple Syrup Urine Disease)

 

 

*Cases of these disorders, reported by other screening programs, had not yet been detected in North Carolina. (n)= number of patients. Total number of neonates screened 237,774.
 
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