ArticleJournal of clinical medicine2021
Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026Pooled it
- Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria.International journal of molecular sciences · 2025Article
- Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria.JIMD reports · 2025Article
- Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.Metabolites · 2024Article
- Identification of metabolites reproducibly associated with Parkinson's Disease via meta-analysis and computational modelling.NPJ Parkinson's disease · 2024Article
- Gut microbiota-dependent phenylacetylglutamine in cardiovascular disease: current knowledge and new insights.Frontiers of medicine · 2024Review
- Phenylacetylglutamine as a risk factor and prognostic indicator of heart failure.ESC heart failure · 2022Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Phenylketonuria (PKU), an autosomal-recessive inborn error of phenylalanine (Phe) metabolism is the most prevalent disorder of amino acid metabolism. Currently, clinical follow-up relies on frequent monitoring of Phe levels in blood. We hypothesize that the urine level of phenylacetylglutamine (PAG), a phenyl-group marker, could be used as a non-invasive biomarker. In this cross-sectional study, a validated liquid chromatography coupled to tandem mass spectrometry (LC-MS) method was used for urinary PAG quantification in 35 participants with hyperphenylalaninemia (HPA) and 33 age- and sex-matched healthy controls. We have found that (a) PKU patients present higher urine PAG levels than healthy control subjects, and that (b) there is a significant correlation between urine PAG and circulating Phe levels in patients with HPA. In addition, we show a significant strong correlation between Phe levels from venous blood samples and from capillary finger-prick dried blood spot (DBS) samples collected at the same time in patients with HPA. Further research in order to assess the potential role of urine PAG as a non-invasive biomarker in PKU is warranted.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.