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Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis
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DOI：10.1016/j.ymgme.2026.110153.png)
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Abstract
En 中文
Phenylketonuria (PKU) is an inborn error of metabolism caused by phenylalanine hydroxylase (PAH) deficiency. Sepiapterin, the most recently FDA-approved therapeutic for PKU, is indicated for sepiapterin-responsive PKU in individuals >1 month of age. Real-world experience is needed to characterize clinical impact across patient subsets.
Keywords:
phenylketonuria
sepiapterin
PAH deficiency
real-world experience
therapeutic intervention
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