| Disorder | Enzyme Or Test |
| Propionic acidaemia* | Propionyl-CoA carboxylase |
| Methylmalonic acidaemia* | [14C]-propionate incorporation |
| 3-methylcrotonyl glycinuria* | 3-methylcrotonyl-CoA carboxylase |
| Multiple carboxylase deficiency | Propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase |
(* = prenatal diagnosis available)