{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T13:45:07Z","timestamp":1768830307539,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T00:00:00Z","timestamp":1639440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present the case of a 20\u2010year\u2010old male with a history of myopathy and multiple episodes of rhabdomyolysis, and lactic acidosis. He needed hemodialysis for severe rhabdomyolysis\u2010related acute renal failure at the time of initial presentation (age 10\u2009years). Exome sequencing detected a homozygous likely pathogenic variant in <jats:italic>FDX2<\/jats:italic> (c.12G&gt;T, p.M4I). The <jats:italic>FDX2<\/jats:italic> gene encodes a mitochondrial protein, ferredoxin 2, that is involved in the biogenesis of Fe\u2013S clusters. Biallelic pathogenic variants in <jats:italic>FDX2<\/jats:italic> have previously been associated with episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy. Only two cases with <jats:italic>FDX2\u2010<\/jats:italic>related rhabdomyolysis as a predominant feature have been reported in medical literature. Here, we report a third patient with <jats:italic>FDX2<\/jats:italic>\u2010related recurrent, severe episodes of rhabdomyolysis and lactic acidosis. He does not have optic atrophy or leukoencephalopathy. This is the oldest patient reported with <jats:italic>FDX2<\/jats:italic>\u2010related disorder and he has significantly elevated CK during episodes of rhabdomyolysis. In addition, we describe untargeted global metabolomic findings during an episode of metabolic decompensation, shedding light on the biochemical pathway perturbation associated with this ultra\u2010rare genetic disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.62608","type":"journal-article","created":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T12:27:51Z","timestamp":1639484871000},"page":"1239-1244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Rare presentation of <scp><i>FDX2<\/i>\u2010related<\/scp> disorder and untargeted global metabolomics findings"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4683-0806","authenticated-orcid":false,"given":"Anjali","family":"Aggarwal","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2943-2136","authenticated-orcid":false,"given":"Nishitha R.","family":"Pillai","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Charles J.","family":"Billington","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Schema","sequence":"additional","affiliation":[{"name":"M\u2010Health Fairview  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan A.","family":"Berry","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of 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