TABLE 1.
Treatment guidelines of IEM and methods used for their development
| Condition/referenc€e | Methodology |
|---|---|
| Aromatic aminoacid decarboxylase deficiency 16 | SIGN, GRADE |
| Cobalamin deficiencies 17 | SIGN, GRADE |
| Cystathionine beta synthase deficiency 108 | SIGN |
| Galactosemia 18 | GRADE |
| GA1 19 | SIGN |
| GA1 20 | SIGN, GRADE |
| Glycogenosis type 1 21 | Literature review and consensus; no grading of evidence level and recommendation strength |
| Glycogenosis types 6 and 9 22 | Literature review and consensus; no grading of evidence level and recommendation strength |
| Maple syrup urine disease 23 | Evidence‐consensus based 24 |
| Methylmalonic and propionic aciduria 25 | SIGN |
| Phenylalanine hydroxylase deficiency 26 | SIGN and consensus agreement on recommendation strength |
| Phenylalanine hydroxylase deficiency 27 | Evidence‐consensus based 24 |
| PKU 28 | SIGN |
| Phosphomannomutase 2‐congenital disorders of glycosylation 29 | SIGN |
| Propionic academia 30 | Evidence‐consensus based 24 |
| Pyridoxine‐dependent epilepsy (ALDH7A1‐related) 31 | GRADE |
| Tetrahydrobiopterin deficiencies 32 | SIGN, GRADE |
| Tyrosinemia type 1 33 | AGREE |
| Urea cycle defects 34 | SIGN |
| Urea cycle defects 35 | SIGN, GRADE |
| Very long chain acyl CoA dehydrogenase deficiency 36 | Oxford Centre for evidence‐based methods |
| 3‐Methylcrotonyl CoA carboxylase deficiency 37 | Oxford Centre for evidence‐based methods |
Abbreviations: AGREEII, Appraisal of Guidelines for Research and Evaluation; GRADE, Grading of Recommendations, Assessment, Development and Evaluations; IEM, inborn errors of metabolism; PKU, phenylketonuria; SIGN, Scottish Intercollegiate Guideline Network.