About Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the PAH gene encoding phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine. Without treatment, elevated blood phenylalanine causes progressive intellectual disability and neurological damage. PKU is detected by newborn screening, and lifelong management includes a low-phenylalanine diet; sapropterin (Kuvan) and pegvaliase (Palynziq) are approved pharmacological therapies.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Phenylketonuria trials.
Sapropterin (BH4) responsiveness testing is required before enrollment in BH4-related trials — responders and non-responders are separate cohorts
Blood phenylalanine levels at baseline and throughout diet history are key eligibility and outcome measures
Pegvaliase (Palynziq) trials typically require documented failure or intolerance of dietary management
Maternal PKU trials specifically target women of childbearing age — pregnancy planning is a distinct eligibility pathway
Patient Resources
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