Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress.
Energy
Metabolomics
Oxidative stress
Phenylketonuria
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
07 Apr 2021
07 Apr 2021
Historique:
received:
04
03
2021
revised:
02
04
2021
accepted:
02
04
2021
entrez:
13
4
2021
pubmed:
14
4
2021
medline:
14
4
2021
Statut:
aheadofprint
Résumé
Classical phenylketonuria (PKU, OMIM 261600) owes to hepatic deficiency of phenylalanine hydroxylase (PAH) that enzymatically converts phenylalanine (Phe) to tyrosine (Tyr). PKU neurologic phenotypes include impaired brain development, decreased myelination, early onset mental retardation, seizures, and late-onset features (neuropsychiatric, Parkinsonism). PAH deficiency leads to systemic hyperphenylalaninemia; however, the impact of Phe varies between tissues. To characterize tissue response to hyperphenylalaninemia, metabolomics was applied to tissue from therapy noncompliant classical PKU patients (blood, liver), the Pah
Identifiants
pubmed: 33846068
pii: S1096-7192(21)00686-7
doi: 10.1016/j.ymgme.2021.04.002
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2021. Published by Elsevier Inc.