{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gonzalez-Rodriguez A"],"funding":["Fundació La Marató de TV3"],"pagination":["11808"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12732599"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(24)"],"pubmed_abstract":["Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by phenylalanine hydroxylase deficiency, leading to phenylalanine (Phe) accumulation and neurological dysfunction if untreated. While metabolomics holds promise for biomarker discovery in PKU, few studies have examined urinary metabolites using untargeted approaches. This study applied untargeted metabolomics using HPLC-QTOF-MS to analyze urine from 36 adult patients with PKU and 34 healthy controls. Biomarker Analysis was performed with MetaboAnalyst 6.0. A total of 73 significant metabolites (FDR < 0.05; VIP > 1) were identified, with 29 upregulated and 44 downregulated in PKU. A 23% of these metabolites were related to Phe metabolism, while 77% were associated with alterations across more than 10 metabolic pathways, inc"],"journal":["International journal of molecular sciences"],"pubmed_title":["Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria."],"pmcid":["PMC12732599"],"funding_grant_id":["202014-32"],"pubmed_authors":["Llorach R","Pane A","Lopez Galera RM","Urpi-Sarda M","Jauregui O","Consortium PKU.cat","Garrabou G","Milisenda JC","Forga Visa MT","Montserrat-Carbonell C","Moreno Lozano PJ","Barrau-Martinez B","Guitart-Mampel M","Garcia-Villoria J","Gonzalez-Rodriguez A","Roca-Vives R","Matas-Garcia A","Tobias E"],"additional_accession":[]},"is_claimable":false,"name":"Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria.","description":"Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by phenylalanine hydroxylase deficiency, leading to phenylalanine (Phe) accumulation and neurological dysfunction if untreated. While metabolomics holds promise for biomarker discovery in PKU, few studies have examined urinary metabolites using untargeted approaches. This study applied untargeted metabolomics using HPLC-QTOF-MS to analyze urine from 36 adult patients with PKU and 34 healthy controls. Biomarker Analysis was performed with MetaboAnalyst 6.0. A total of 73 significant metabolites (FDR < 0.05; VIP > 1) were identified, with 29 upregulated and 44 downregulated in PKU. A 23% of these metabolites were related to Phe metabolism, while 77% were associated with alterations across more than 10 metabolic pathways, inc","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-05-28T03:19:56.045Z","creation":"2026-05-28T03:11:25.92Z"},"accession":"S-EPMC12732599","cross_references":{"pubmed":["41465241"],"doi":["10.3390/ijms262411808"]}}