Which patients with mutations in phenylalanine hydroxylase are most likely to respond to BH₄ supplementation?

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Patients with residual PAH activity are most likely to respond to BH₄ (tetrahydrobiopterin) supplementation because BH₄ is a cofactor for the enzyme phenylalanine hydroxylase. Those with some remaining activity of this enzyme can potentially increase its function with the addition of BH₄, improving the metabolism of phenylalanine.

Which Patients with Mutations in Phenylalanine Hydroxylase Are Most Likely