Table 1.
Disorder Group | Disorder(s) | Abbreviation |
---|---|---|
Endocrine | Primary Congenital Hypothyroidism | CH |
Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) | CAH | |
Amino Acid | Homocystinuria | HCY |
Methionine Adenosine Transferase Deficiency (Hypermethioninemia) | MAT | |
Maple Syrup Urine Disease | MSUD | |
Phenylketonuria | PKU | |
a Tyrosinemia Type I, II, III | TYR | |
Fatty Acid Oxidation | Carnitine Palmitoyltransferase I Deficiency | CPT1 |
Carnitine Palmitoyltransferase II Deficiency | CPT2 | |
Carnitine Uptake Deficiency | CUD | |
Glutaric Acidemia Type II | GA II | |
Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency | LCHAD | |
Medium Chain-Acyl-CoA Dehydrogenase Deficiency | MCAD | |
Very Long Chain-Acyl-CoA Dehydrogenase Deficiency | VLCAD | |
Tri-functional Protein Deficiency | TFP | |
Organic Acid | 3-Methylcrotonyl CoA Carboxylase Deficiency | 3MCC |
Beta Ketothiolase Deficiency | BKT | |
Glutaric Acidemia Type I | GA1 | |
Isovaleric Acidemia | IVA | |
Methylmalonic Acidemia | MMA | |
Multiple Carboxylase Deficiency | MCD | |
Propionic Acidemia | PA | |
Urea Cycle | Citrullinemia | CIT |
Argininosuccinic Aciduria | ASA | |
Hemoglobin | All Detectable Hemoglobinopathies and Thalassemias | HGB |
Other | Galactosemia | GAL |
Glucose-6-Phosphate Dehydrogenase Deficiency | G6PDD | |
Cystic Fibrosis | CF | |
Biotinidase Deficiency | BIO |
a Screening methodology includes screening for both succinyl acetone and tyrosine.