{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Demetriadou A"],"funding":["Univerzita Karlova v Praze","Charles University","The Cyprus Institute of Neurology and Genetics","Ministry of Health Czech Republic","General University Hospital Prague"],"pagination":["e70029"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12010149"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["48(3)"],"pubmed_abstract":["3-methylglutaconic aciduria (3-MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders. Conditions manifesting 3-MGCA are classified into two major categories, primary and secondary. Primary 3-MGCAs involve two inherited enzymatic deficiencies affecting leucine catabolism, whereas secondary 3-MGCAs comprise a larger heterogeneous group of conditions that have in common compromised mitochondrial energy metabolism. Here, we report 3-MGCA in two siblings presenting with sensorineural hearing loss and neurological abnormalities associated with a novel, homozygous missense variant (c.1999C>G, p.Leu667Val) in the YME1L1 gene which encodes a mitochondrial ATP-dependent metalloprotease. We show that the identified variant results in compromised YME1L1 function, as eviden"],"journal":["Journal of inherited metabolic disease"],"pubmed_title":["YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria."],"pmcid":["PMC12010149"],"funding_grant_id":["2024-21","DRO-VFN64165","UNCE/24/MED/022"],"pubmed_authors":["Petrou PP","Paramera E","Dionysiou M","Drousiotou A","Mavrikiou G","Grafakou O","Sismani C","Anastasiadou V","Krizova J","Hansikova H","Demetriadou A","Malekkou A","Ioannou I","Georgiou T","Burska D","Papakonstantinou E","Theodosiou A"],"additional_accession":[]},"is_claimable":false,"name":"YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.","description":"3-methylglutaconic aciduria (3-MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders. Conditions manifesting 3-MGCA are classified into two major categories, primary and secondary. Primary 3-MGCAs involve two inherited enzymatic deficiencies affecting leucine catabolism, whereas secondary 3-MGCAs comprise a larger heterogeneous group of conditions that have in common compromised mitochondrial energy metabolism. Here, we report 3-MGCA in two siblings presenting with sensorineural hearing loss and neurological abnormalities associated with a novel, homozygous missense variant (c.1999C>G, p.Leu667Val) in the YME1L1 gene which encodes a mitochondrial ATP-dependent metalloprotease. We show that the identified variant results in compromised YME1L1 function, as eviden","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-03T04:53:13.769Z","creation":"2025-07-03T03:04:40.326Z"},"accession":"S-EPMC12010149","cross_references":{"pubmed":["40255048"],"doi":["10.1002/jimd.70029"]}}