O09: Sepiapterin responsiveness over 14 days in children and adults with phenylketonuria: Pooled results from three phase 3 clinical trials

Genetics in Medicine Open 2026 Open access

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Authors: Melissa D. Lah, Nicola Longo, Maria Giżewska, Janet Thomas, Amaya Bélanger‐Quintana, Ida Vanessa Schwartz, Heidi L Peters, Kimberly A. Ingalls, Zhenming Zhao, Neil Smith, Ania Muntau
DOI: 10.1016/j.gimo.2026.104294
Cited by: 0

Abstract

Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism caused by a deficiency of Phe hydroxylase (PAH). PAH converts Phe to tyrosine; therefore, a deficiency in PAH leads to elevated blood Phe levels that, if left untreated, can lead to neurocognitive impairment and psychosocial disorders. Management options for people with PKU include a lifelong Phe-restricted diet or pharmacological therapy.

Fields of Study & Subjects

Metabolism and Genetic Disorders Lysosomal Storage Disorders Research Amino Acid Enzymes and Metabolism

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104294–104294
Publication date
1 January 2026
Language
EN