Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Abstract Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary Phe restriction, yet long-term complete metabolic...

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Bibliographic Details
Main Authors: Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring
Format: Article
Language:English
Published: BMC 2024-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Phenylketonuria
Phenylalanine hydroxylase
Phenylalanine
Comorbidity
Diet
Disease burden
Online Access:https://doi.org/10.1186/s13023-024-03203-z

Internet

https://doi.org/10.1186/s13023-024-03203-z

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