Article
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Molecules (Basel, Switzerland) - 22 Jun 2023
Cannet Claire, Bayat Allan, Frauendienst-Egger Georg, Freisinger Peter, Spraul Manfred, Himmelreich Nastassja, Kockaya Musa, Ahring Kirsten, Godejohann Markus, MacDonald Anita, Trefz Friedrich
Abstract excerpt
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...
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