{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T21:08:57Z","timestamp":1790716137012,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T00:00:00Z","timestamp":1720137600000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Glutaric aciduria type II (GA2) is a rare genetic disorder inherited in an autosomal recessive manner. Double dosage mutations in GA2 corresponding genes, <jats:italic>ETFDH<\/jats:italic>, <jats:italic>ETFA<\/jats:italic>, and <jats:italic>ETFB<\/jats:italic>, lead to defects in the catabolism of fatty acids, and amino acids lead to broad\u2010spectrum phenotypes, including muscle weakness, developmental delay, and seizures. product of these three genes have crucial role in transferring electrons to the electron transport chain (ETC), but are not directly involve in ETC complexes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, by using exome sequencing, the cause of periodic cryptic gastrointestinal complications in a 19\u2010year\u2010old girl was resolved after years of diagnostic odyssey. Protein modeling for the novel variant served as another line of validation for it.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exome Sequencing (ES) identified two variants in <jats:italic>ETFDH<\/jats:italic>: <jats:italic>ETFDH<\/jats:italic>:c.926T&gt;G and ETFDH:c.1141G&gt;C. These variants are likely contributing to the crisis in this case. To the best of our knowledge at the time of writing this manuscript, variant <jats:italic>ETFDH<\/jats:italic>:c.926T&gt;G is reported here for the first time. Clinical manifestations of the case and pathological analysis are in consistent with molecular findings. Protein modeling provided another line of evidence proving the pathogenicity of the novel variant. <jats:italic>ETFDH<\/jats:italic>:c.926T&gt;G is reported here for the first time in relation to the causation GA2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Given the milder symptoms in this case, a review of GA2 cases caused by compound heterozygous mutations was conducted, highlighting the range of symptoms observed in these patients, from mild fatigue to more severe outcomes. The results underscore the importance of comprehensive genetic analysis in elucidating the spectrum of clinical presentations in GA2 and guiding personalized treatment strategies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2489","type":"journal-article","created":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T15:19:17Z","timestamp":1720192757000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A compound heterozygote case of glutaric aciduria type <scp>II<\/scp> in a patient carrying a novel candidate variant in <scp><i>ETFDH<\/i><\/scp> gene: A case report and literature review on compound heterozygote cases"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6151-7826","authenticated-orcid":false,"given":"Mohammad Reza","family":"Seyedtaghia","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Hormozgan University of Medical 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