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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.
Fuente: Journal of clinical medicine 2021, 10, 3674
Fecha de publicación: 19/08/2021
Nº de páginas: 11
Tipo de publicación: Artículo de Revista
Url de la publicación: https://doi.org/10.3390/jcm10163674
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UNCETA SUAREZ, MARÍA
FRUTOS, GORKA DE
DOMINGO GONZALEZ-LAMUÑO LEGUINA
HERAS, JAVIER DE LAS