{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:39:38Z","timestamp":1790962778583,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Ferredoxin\u20102 (FDX2) is an electron transport protein required for iron\u2013sulfur clusters biosynthesis. Pathogenic variants in <jats:italic>FDX2<\/jats:italic> have been associated with autosomal recessive <jats:italic>FDX2<\/jats:italic>\u2010related disorder characterized by mitochondrial myopathy with or without optic atrophy and leukoencephalopathy. We described a new case harboring compound heterozygous variants in <jats:italic>FDX2<\/jats:italic> who presented with recurrent rhabdomyolysis with severe episodes affecting respiratory muscle. Biochemical analysis of the patients revealed hyperexcretion of 2\u2010hydroxyadipic acid, along with previously reported biochemical abnormalities. The proband demonstrated increased lactate and creatine kinase (CK) with increased amount of glucose infusion. Lactate and CK drastically decreased when parenteral nutrition containing high protein and lipid contents with low glucose was initiated. Overall, we described a new case of <jats:italic>FDX2<\/jats:italic>\u2010related disorder and compare clinical, biochemical and molecular findings with previously reported cases. We demonstrated that 2\u2010hydroxyadipic acid biomarker could be used as an adjunct biomarker for <jats:italic>FDX2<\/jats:italic>\u2010related disorder and the use of parenteral nutrition as a treatment option for the patient with <jats:italic>FDX2<\/jats:italic>\u2010related disorder during rhabdomyolysis episode.<\/jats:p><\/jats:sec><jats:sec><jats:title>Highlights<\/jats:title><jats:p>2\u2010Hydroxyadipic acid can serve as a potential adjunct biomarker for iron\u2010sulfur assembly defects and lipoic acid biosynthesis disorders. Parenteral nutrition containing high lipid and protein content could be used to reverse acute rhabdomyolysis episodes in the patients with FDX2\u2010related disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12408","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T08:54:54Z","timestamp":1706000094000},"page":"102-109","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical, biochemical and molecular characterization of a new case with <scp><i>FDX2<\/i><\/scp>\u2010related mitochondrial disorder: Potential biomarkers and treatment options"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7321-307X","authenticated-orcid":false,"given":"Parith","family":"Wongkittichote","sequence":"first","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pathology and 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