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Table 3 Questions to consider before pharmacotherapy for a child <4 years

From: Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

• Has a BH4 loading test already been performed over 24 h (in the neonatal period) or over 48 h (in children older than neonates) and did the test indicate that the child was BH4 responsive?

• Does the patient have a genotype that is associated with a good probability of being BH4 responsive?