Comparative metabolomics in the Pah
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:
05 2022
05 2022
Historique:
received:
07
03
2022
accepted:
08
03
2022
pubmed:
4
4
2022
medline:
18
5
2022
entrez:
3
4
2022
Statut:
ppublish
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). Phe over-representation is systemic; however, tissue response to hyperphenylalaninemia is not consistent. To characterize hyperphenylalaninemia tissue response, metabolomics was applied to Pah
Identifiants
pubmed: 35367142
pii: S1096-7192(22)00155-X
doi: 10.1016/j.ymgme.2022.03.004
pmc: PMC9759961
mid: NIHMS1857163
pii:
doi:
Substances chimiques
Reactive Oxygen Species
0
Phenylalanine
47E5O17Y3R
Phenylalanine Hydroxylase
EC 1.14.16.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
38-45Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK090242
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK117916
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD103602
Pays : United States
Informations de copyright
Copyright © 2022 Elsevier Inc. All rights reserved.
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