DISORDERS POTENTIALLY DETECTABLE BY THE COMPREHENSIVE NEWBORN SCREENING PROGRAM AT NEO GEN SCREENING

                                                                                                                       

 Biotinidase Deficiency

 Congenital Adrenal Hyperplasia:

             Salt Wasting 21 Hydroxylase Deficiency

             Simple Virilizing 21 Hydroxylase Deficiency

 Congenital Hypothyroidism

 Cystic Fibrosis (not valid after 3 months of age)

 Galactosemia:

             Galactokinase Deficiency

             Galactose-1-Phosphate Uridyl Transferase Deficiency

             Galactose-4-Epimerase Deficiency

 Glucose-6-Phosphate Dehydrogenase Deficiency

 Sickle Cell Disease

 Amino Acid Disorders (using tandem mass spectrometry):

            Phenylketonuria

            Maple Syrup Urine Disease

            Citrullinemia

            Argininosuccinic Aciduria

 Acylcarnitine Disorders (using tandem mass spectrometry):

            Organic Acid Disorders:

                          Methylmalonic Acidemias:

                                     Methylmalonyl-CoA Mutase Deficiencies (mut0 and mut+)                                                       

                                     *Adenosylcobalamin Synthesis Defects (CblA and CblB)

                         Propionic Acidemia (Acute and Late Onset)

                         Isovaleric Acidemia (Acute and Late Onset)

                         Glutaric Acidemia-Type I

                        3-Methylcrotonyl-CoA Carboxylase Deficiency

                        3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

                        *Multiple CoA Carboxylase Deficiency

                        *3-Ketothiolase Deficiency

                        *3-Methylglutaconyl-CoA Hydratase Deficiency

                        *2,4-Dienoyl-CoA Reductase Deficiency

 

            Fatty Acid Oxidation Disorders:

                         Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

                         Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)

                         Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

                         3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency

                         *Carnitine Palmitoyl Transferase Deficiency-Type II

                         Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Acidemia-Type II) 

* Theoretically detectable in newborn period, but not yet identified in our SNS Program  2-10-2000