{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Baydakova GV"],"funding":["The Ministry of Science and Higher Education of the Russian Federation","The Ministry of Science and Higher Education of the Russian Federation (the Federal Scientific-technical program for genetic technologies development for 2019-2027)"],"pagination":["48"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10531771"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(3)"],"pubmed_abstract":["Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype-phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines in dried blood spots was performed using ESI-MS/MS. The established \"HADHA ratio\" = (C16OH + C18OH + C18:1OH)/C0 was significantly elevated in all 54 affected individuals in comparison to the control "],"journal":["International journal of neonatal screening"],"pubmed_title":["New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency."],"pmcid":["PMC10531771"],"funding_grant_id":["Agreement N 075-15-2021-1061, RF 193021X0029","RF 193021X0029","N 075-15-2021-1061"],"pubmed_authors":["Baydakova GV","Tsygankova PG","Bazhanova OA","Zakharova EY","Nazarenko YD","Pechatnikova NL"],"additional_accession":[]},"is_claimable":false,"name":"New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.","description":"Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype-phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines in dried blood spots was performed using ESI-MS/MS. The established \"HADHA ratio\" = (C16OH + C18OH + C18:1OH)/C0 was significantly elevated in all 54 affected individuals in comparison to the control ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Aug","modification":"2026-05-14T03:10:22.646Z","creation":"2025-02-19T00:11:19.89Z"},"accession":"S-EPMC10531771","cross_references":{"pubmed":["37754774"],"doi":["10.3390/ijns9030048"]}}