It is clear that some patients (but not all) with PKU respond to tetrahydrobiopterin (BH4), the naturally occurring essential cofactor for Phenylalanine hydroxylase (PAH), but what percentage of the PKU population are responsive to BH4?
Is BH4 responsiveness dependent on PKU presentation? (e.g. more prevalent in mild-pku / hyperphenylalaninaemia compared to classical PKU?
Robin A Williams
Given BH4 is the co-factor in reaction converting Phe to Tyr, one would expect replacing BH4 would have a significant effect in individuals with BH4 deficiency... but little effect in individuals who have a defective PAH enzyme (and are replete in BH4).
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