Below is a list of the Metabolic Disorders tested for on the newborn screens.

Click on the name of the disorder for more information about the disease that is being tested for.

Disorders Tested For in Newborn Screening Profiles TEXAS  BAYLOR PEDIATRIX
     
Fatty Acid Oxidation Disorders        
Carnitine/Acylcarnitine Translocase Deficiency  X X X
Carnitine Palmitoyl Transferase Deficiency Type I1    X X
3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency X X X
2,4-Dienoyl-CoA Reductase Deficiency1    X X
Medium Chain Acyl-CoA Dehydrogenase Deficiency X X X
Multiple Acyl-CoA Dehydrogenase Deficiency   X X
Neonatal Carnitine Palmitoyl Transferase Deficiency Type II   X X
Short Chain Acyl-CoA Dehydrogenase Deficiency   X X
Short Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency   X X
Trifunctional Protein Deficiency X X X
Very Long Chain Acyl-CoA Dehydrogenase Deficiency X X X
     
Organic Acid Disorders       
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  X X X
Glutaric Acidemia Type I  X X X
Isobutyryl-CoA Dehydrogenase Deficiency    X X
Isovaleric Acidemia     X X X
2-Methylbutryl-CoA Dehydrogenase Deficiency    X X
3-Methylcrotonyl-CoA Carboxylase Deficiency  X X X
3-Methylglutaconyl-CoA Hydratase Deficiency    X X
Methylmalonic Acidemias   X X X
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency  X X X
Propionic Acidemia  X X X
Multiple-CoA Carboxylase Deficiency  X X X
Malonic Aciduria   X X
     
     
Amino Acid Disorders      
Argininemia   X X
Argininosuccinic Aciduria  X X X
5-Oxoprolinuria1   X X
Carbamoylphosphate Synthetase Deficiency1    X X
Citrullinemia X X X
Homocystinuria X X X
Hypermethioninemia   X X
Hyperammonemia, Hyperornithinemia, Homocitrullinemia Syn1    X X
Hyperornithinemia with Gyral Atrophy1   X X
Maple Syrup Urine Disease  X X X
Phenylketonuria   X X X
Tyrosinemia I X X X
Tyrosinemia II   X X
Tyrosinemia III   X X
     
Other Testing      
Biotinidase Deficiency X   X
Congenital Adrenal Hyperplasia   X   X
Congenital Hypothyroidism  (not valid after 2 months of age) X   X
Cystic Fibrosis  (not valid after 3 months of age)     X
Galactosemia X   X
Glucose-6-Phosphate Dehydrogenase Deficiency     X
Sickle Cell & other Hemoglobinopathies   X   X
Guanidinoacetate Methyltransferase Deficiency   X  
C4-hydroxy acylcarnitine (screening test for ketosis)   X