Inborn errors of metabolism detectable by Tandem mass spectrometric analysis of acryl-carnitines and amino acids
| Inherited enzyme defect | McKusick number | Incidence |
|---|---|---|
| Short chain acyl-CoA dehydrogenase | 201470 | ? |
| Medium chain acyl-CoA dehydrogenase | 201450 | 1:8000 |
| Very long chain acyl-CoA dehydrogenase | 201475 | ? |
| Long chain 3-hydroxyacyl-CoA dehydrogenase | 143450 | ? |
| Long chain-2,4-dienoyl-CoA reductase | 222745 | ? |
| Glutaryl-CoA dehydrogenase | 231670 | 1:30 000 |
| Multiple acyl-CoA dehydrogenase | 305950 | ? |
| Propionyl-CoA carboxylase | 232050 | 1:50 000 |
| Methylmalonyl-CoA mutase | 251100 | 1:48 000 |
| Isovaleryl-CoA dehydrogenase | 243500 | 1:50 000 |
| Branched chain ketoacid dehydrogenase | 248600 | 1:185 000 |
| Phenylalanine hydroxylase | 261600 | 1:8000 |
| Tyrosinaemia type I | 276700 | 1:100 000 |
| Non-ketotic hyperglycinaemia | 238300 | 1:55 000 |
| 3-Hydroxy-3-methylglutaryl-CoA lyase | 246450 | ? |
| Citrullinaemia | 215700 | 1:250 000 |
| β-ketothiolase | 203750 | ? |
| 3-Methylcrotonyl-CoA carboxylase | 210200 | ? |
| Maple syrup urine disease | 248600 | 1:290 000 |
| Camitine palmitoyltransferase I | 600528 | ? |
| Carnitine palmitoyltransferase II | 600650 | ? |