Table 1.

Core conditions screened in the newborn period categorized by screening methodology and family of disorder.

Tandem Mass Spectrometry			Hematology	Others
Acylcarnitines
Organic Acidurias	Fatty Acid Oxidation	Amino Acids
Isovaleric acidemia Glutaric acidemia type I 3-Hydroxy 3 –methyl glutaric aciduria Multiple carboxylase deficiency Methylmalonic acidemia 3-Methylcrotonyl-CoA carboxylase deficiency Propionic acidemia β-Ketothiolase	Medium-chain acyl- CoA dehydrogenase deficiency Very long-chain acyl- CoA dehydrogenase deficiency Long-chain L-3- hydroxyacyl-CoA dehydrogenase Trifunctional protein deficiency Carnitine uptake defect	Phenylketonuria Maple syrup (urine) disease Homocystinuria Citrullinemia Argininosuccinic aciduria Tyrosinemia type I	Sickle cell anemia Hb S/β thalassemia Hb S/C disease	Congenital hypothyroid Biotinidase Congenital adrenal hyperplasia Classical galactosemia Hearing loss Cystic fibrosis Severe combined immunodeficiency

Diseases in bold are treated with medical foods and/or single amino acids and amino acid mixtures, vitamins, and other compounds. Terminology consistent with [23].