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Twenty\u2010one patients have been described so far. In the current study, we report on the identification of new biallelic variants in <jats:italic>SLC25A42<\/jats:italic> in three siblings. Patients presented with symmetrical T2 hyperintensity of the putamen with minor volume depression at the brain MRI, elevated lactate, reduced oxygen consumption rates in muscle and fibroblasts, and reduced CoA levels in fibroblasts. Administration of pantothenic acid led to clinical stabilization and increased CoA levels in fibroblasts, thus confirming a role for SLC25A42 in energy metabolism and CoA homeostasis.<\/jats:p>","DOI":"10.1002\/jmd2.12441","type":"journal-article","created":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T06:38:28Z","timestamp":1724308708000},"page":"417-425","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the genetic and clinical spectrum of <scp>SLC25A42<\/scp>\u2010associated disorders and testing of pantothenic acid to improve <scp>CoA<\/scp> level in vitro"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9261-8798","authenticated-orcid":false,"given":"Katharina","family":"Heckmann","sequence":"first","affiliation":[{"name":"Department of General Pediatrics University Hospital M\u00fcnster  M\u00fcnster 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