Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo
Ex Vivo 1H-NMR analysis spectroscopy
genotype
metabolomics
pathogenesis
phenylketonuria
Journal
Molecules (Basel, Switzerland)
ISSN: 1420-3049
Titre abrégé: Molecules
Pays: Switzerland
ID NLM: 100964009
Informations de publication
Date de publication:
22 Jun 2023
22 Jun 2023
Historique:
received:
24
04
2023
revised:
13
06
2023
accepted:
14
06
2023
medline:
17
7
2023
pubmed:
14
7
2023
entrez:
14
7
2023
Statut:
epublish
Résumé
Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation, medical treatment, and patient dietary management, elevated phenylalanine (Phe) may occur in blood and brain tissues. Research has recently shown that high Phe not only impacts the central nervous system, but also other organ systems (e.g., heart and microbiome). This study used ex vivo proton nuclear magnetic resonance (
Identifiants
pubmed: 37446577
pii: molecules28134916
doi: 10.3390/molecules28134916
pmc: PMC10343293
pii:
doi:
Substances chimiques
Phenylalanine
47E5O17Y3R
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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