{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15"],"submitter":["Xiao D"],"pubmed_abstract":["<h4>Objective</h4>To accurately verify the pathogenicity of variants of uncertain significance (VUS) in <i>MUT</i> and <i>MMACHC</i> genes through mass spectrometry and <i>silico</i> analysis.<h4>Methods</h4>This multicenter retrospective study included 35 participating units (ClinicalTrials.gov ID: NCT06183138). A total of 3,071 newborns (within 7 days of birth) were sorted into carrying pathogenic/likely pathogenic (P/LP) variants and carrying VUS, non-variant groups. Differences in metabolites among the groups were calculated using statistical analyses. Changes in conservatism, free energy, and interaction force of <i>MMUT</i> and <i>MMACHC</i> variants were analyzed using <i>silico</i> analysis.<h4>Results</h4>The percentage of those carrying VUS cases was 68.15% (659/967). In the <i>M"],"journal":["Frontiers in genetics"],"pagination":["1403913"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11284102"],"repository":["biostudies-literature"],"pubmed_title":["Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia."],"pmcid":["PMC11284102"],"pubmed_authors":["Li H","Su C","Miu T","Gu X","Xiao X","Zhou W","Lu F","Ye Y","Yuan G","Li Z","Li S","Shi C","Zhang Y","Huang W","Wei T","Ma H","Diao S","Zhuang G","Hao H","Xiao D","Wang Y"],"additional_accession":[]},"is_claimable":false,"name":"Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.","description":"<h4>Objective</h4>To accurately verify the pathogenicity of variants of uncertain significance (VUS) in <i>MUT</i> and <i>MMACHC</i> genes through mass spectrometry and <i>silico</i> analysis.<h4>Methods</h4>This multicenter retrospective study included 35 participating units (ClinicalTrials.gov ID: NCT06183138). A total of 3,071 newborns (within 7 days of birth) were sorted into carrying pathogenic/likely pathogenic (P/LP) variants and carrying VUS, non-variant groups. Differences in metabolites among the groups were calculated using statistical analyses. Changes in conservatism, free energy, and interaction force of <i>MMUT</i> and <i>MMACHC</i> variants were analyzed using <i>silico</i> analysis.<h4>Results</h4>The percentage of those carrying VUS cases was 68.15% (659/967). In the <i>M","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-04-21T03:24:04.747Z","creation":"2026-04-21T03:14:22.546Z"},"accession":"S-EPMC11284102","cross_references":{"pubmed":["39076170"],"doi":["10.3389/fgene.2024.1403913"]}}