2021
DOI: 10.3390/jcm10163674
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Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia

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 quanti… Show more

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Cited by 5 publications
(3 citation statements)
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“…Those with infections, malignant tumours, acute myocardial infarction and autoimmune diseases, those who had undergone renal replacement therapy, those who had used antibiotics within 4 weeks before enrolment and those who had undergone open‐heart surgery within 4 weeks before enrolment were excluded. Because PAGln levels can be elevated by phenylketonuria, 20 our patients were also excluded from this condition. HF was defined as cardiac systolic dysfunction with left ventricular ejection fraction (LVEF) ≤ 50%.…”
Section: Methodsmentioning
confidence: 99%
“…Those with infections, malignant tumours, acute myocardial infarction and autoimmune diseases, those who had undergone renal replacement therapy, those who had used antibiotics within 4 weeks before enrolment and those who had undergone open‐heart surgery within 4 weeks before enrolment were excluded. Because PAGln levels can be elevated by phenylketonuria, 20 our patients were also excluded from this condition. HF was defined as cardiac systolic dysfunction with left ventricular ejection fraction (LVEF) ≤ 50%.…”
Section: Methodsmentioning
confidence: 99%
“…In addition, the increased levels of phenylacetyl-L-glutamine 22 , 34 , 35 , 49 , 86 , a phenylalanine derivative, was identified in the blood and urine of PD patients in five studies. Phenylacetyl-L-glutamine was derived from phenylalanine through gut microbiota by decarboxylation and then conjugated with glutamine 87 , 88 . Therefore, the increased levels of phenylacetyl-L-glutamine are highly associated with the metabolism of phenylalanine and glutamine in PD, and reflect the high activity of gut microbiota in PD patients.…”
Section: Resultsmentioning
confidence: 99%
“…The accession numbers of immune cells data were from GCST0001391 to GCST0002121, obtained from the GWAS Catalog provided by Valeria Orrù's group 42 . In this study, they pro led 731 immune cell traits and genotyped 22 million SNPs from 3,757 European individuals of unique family-based cohort, based on the high-density arrays or imputed through sequence-based reference panel.…”
Section: Data Sourcesmentioning
confidence: 99%