Table 1.
Number of patients and disorder type enrolled for earwax analysis study
| Disorder type | Number of patients | Disorder abbreviation |
|---|---|---|
| GlurarylCoA dehydrogenase deficiency | n = 3 | GA1 |
| IsovalerylCoA dehydrogenase deficiency | n = 2 | IVA |
| Methylmalonic aciduria | n = 1 | MMA |
| Medium chain acylCoA dehydrogenase deficiency | n = 4 | MCADDD |
| Long chain hydroxyacylCoA dehydrogenase deficiency | n = 3 | LCHADD |
| Branched‐chain ketoacid dehydrogenase deficiency | n = 3 | BCKDD |
| Phenylketonuria | n = 6 | PKU |
| Tyrosinaemia Type 1 | n = 1 | TYR1 |
| Argininosuccinate lyase deficiency | n = 2 | ASALD |
| Argininosuccinate synthase deficiency | n = 2 | ASASD |
| Lysinuric protein intolerance | n = 1 | LPI |