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Table 1 Justification and benefits of the neonatal BH4 loading test
| Criteria/benefit of the neonatal BH4 loading test | |
|---|---|
| 1 | BH4 treatment is now available from birth in Europe (as well as USA) |
| 2 | The Phe concentration in the newborn with a genetic defect in phenylalanine metabolism is spontaneously evaluated |
| 3 | The neonatal test allows the early diagnosis of GTPCH or PTPS deficiency |
| 4 | The normalization of blood Phe concentration will be reached sooner in the responsive neonates |
| 5 | The 24-h test only delays the management of the condition by 24 h and allows treatment to begin within the first 10 days of life |
| 6 | A complete phenotype of the patient is generated (Phe level and BH4 responsiveness) |
| 7 | The parents are rapidly informed of the types of treatment that are available for their child |
| 8 | Some patients will be able to avoid the dietetic treatment from birth |
| 9 | The good safety profile of this molecule is well established |
| 10 | The neonatal test avoids performing a Phe load in young patients after the newborn period |
