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Article

Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis.

Molecular genetics and metabolism - 1 Aug 2026

Vucko Erika R, Arduini Katie, Becker Karen, Kozek Anne, Kurkjian Brooke, McGrath Gabrielle, Meza Aurora, Schirmacher Sarah, Shim Soo, Smith Madison, Prada Carlos E, Burton Barbara K

Abstract excerpt

BACKGROUND: 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. METHODS: A retrospective chart review was conducted for PKU...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42241871
DOI: 10.1016/j.ymgme.2026.110153

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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