| ARG | Arginase deficiency |
| ASA | Argininosuccinic aciduria |
| BKT | Betaketothiolase deficiency |
| CACT | Carnitine acylcarnitine translocase deficiency |
| CIT | Citrullinemia type 1 |
| CLIR | Collaborative laboratory integrated reports |
| CPT1 | Carnitine palmitoyl transferase 1 deficiency |
| CPT2 | Carnitine palmitoyl transferase 2 deficiency |
| CUD | Carnitine uptake deficiency |
| DBS | Dried blood spots |
| GA1 | Glutaric aciduria type 1 |
| HCY | Homocystinuria |
| IVA | Isovaleric aciduria |
| LCHAD | Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
| LIS | Laboratory information system |
| MAD | Multiple acyl-coenzyme A dehydrogenase deficiency |
| MCAD | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| MMA | Methylmalonic aciduria |
| MS/MS | Tandem mass spectrometry |
| MSUD | Maple syrup disease |
| N/A | Not applicable |
| PA | Propionic aciduria |
| PKU | Phenylketonuria |
| PPV | Positive predictive value |
| R4S | Region 4 Stork |
| TYR | Tyrosinemia type 1 |
| VLCAD | Very long-chain acyl-coenzyme A dehydrogenase deficiency |