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Anal Chem
September 2024
Clinical Study and Evidence Based Medicine Institute, Gansu Provincial People's Hospital, Lanzhou 730000, P.R. China.
Phenylketonuria (PKU) is one of the most common genetic metabolic diseases, especially among newborns. Traditional clinical examination of newborn blood samples for PKU is invasive, laborious, and limited to hospitals and healthcare facilities. We reported herein a SERS-based sensor array with three thiophenolic nanoreceptors built on a patterned nanorod vertical array for rapid and inexpensive detection of characteristic volatile biomarkers indicative of PKU in the urine and accurate classification of newborn baby patients all performed on a hand-held SERS spectrophotometer.
View Article and Find Full Text PDFJ Inherit Metab Dis
July 2024
Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, The Netherlands.
Recent studies in PKU patients identified alternative biomarkers in blood using untargeted metabolomics. To test the added clinical value of these novel biomarkers, targeted metabolomics of 11 PKU biomarkers (phenylalanine, glutamyl-phenylalanine, glutamyl-glutamyl-phenylalanine, N-lactoyl-phenylalanine, N-acetyl-phenylalanine, the dipeptides phenylalanyl-phenylalanine and phenylalanyl-leucine, phenylalanine-hexose conjugate, phenyllactate, phenylpyruvate, and phenylacetate) was performed in stored serum samples of the well-defined PKU patient-COBESO cohort and a healthy control group. Serum samples of 35 PKU adults and 20 healthy age- and sex-matched controls were analyzed using ultra-high performance liquid chromatography quadrupole time-of-flight mass spectrometry.
View Article and Find Full Text PDFInt J Mol Sci
January 2024
N. S. Kurnakov Institute of General and Inorganic Chemistry of Russian Academy of Sciences, 119991 Moscow, Russia.
Polymer nanocomposites filled with carbon nanoparticles (CNPs) are a hot topic in materials science. This article discusses the current research on the use of these materials as interfacial electron transfer films for solid contact potentiometric membrane sensors (SC-PMSs). The results of a comparative study of plasticized poly (vinyl chloride) (pPVC) matrices modified with single-walled carbon nanotubes (SWCNTs), fullerenes-C60, and their hybrid ensemble (SWCNTs-C60) are reported.
View Article and Find Full Text PDFJ Inherit Metab Dis
July 2023
Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, The Netherlands.
The inborn error of metabolism phenylketonuria (PKU, OMIM 261600) is most often due to inactivation of phenylalanine hydroxylase (PAH), which converts phenylalanine (Phe) into tyrosine (Tyr). The reduced PAH activity increases blood concentration of phenylalanine and urine levels of phenylpyruvate. Flux balance analysis (FBA) of a single-compartment model of PKU predicts that maximum growth rate should be reduced unless Tyr is supplemented.
View Article and Find Full Text PDFColloids Surf B Biointerfaces
September 2022
College of Life Sciences, Dalian Minzu University, Dalian 116600, Liaoning, PR China. Electronic address:
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism caused by an inherited deficiency in L-phenylalanine-4-hydroxylase (PAH) activity. It is usually controlled by diet and monitored regularly with markers, as PKU is not curable. However, conventional methods for target biomarker analysis are invasive and labor intensive.
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