Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria

Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria

ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism responsible for an accumulation of phenylalanine, which leads to cognitive and developmental disorders if left untreated. Most studies of adult PKU focus on neuropsychiatric complications, but new questions have been raised about system...

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Bibliographic Details
Main Authors: Yann Dos Santos, Patrick Emond, Ida Vanessa Doederlein Schwartz, Antoine Lefèvre, Camille Dupuy, Gabrielle Chicheri, Hélène Blasco, François Maillot
Format: Article
Language:English
Published: Wiley 2025-03-01
Series:JIMD Reports
Subjects:
adults
LC/MS
metabolomics
phenylketonuria
tryptophan metabolism
Online Access:https://doi.org/10.1002/jmd2.70010
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https://doi.org/10.1002/jmd2.70010

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