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