{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T20:07:32Z","timestamp":1789416452455,"version":"build-2803163510"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T00:00:00Z","timestamp":1789344000000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mitochondrial DNA depletion syndrome type 5 (MTDPS5), caused by SUCLA2 mutations, is a rare autosomal recessive disorder manifesting as early-onset encephalomyopathy. Clinical diagnosis is challenging due to phenotypic overlap and potentially unremarkable early investigations. We report a male infant of consanguineous parents who presented with progressive hypotonia, global developmental delay, and involuntary nocturnal movements at 3\u00a0months. Despite an unremarkable newborn metabolic screen and normal initial brain MRI, the patient demonstrated a significant failure to achieve age-appropriate gross motor milestones, including independent sitting and crawling, by 12\u00a0months. Whole-exome sequencing (WES) definitively identified a homozygous likely pathogenic SUCLA2 variant (p.Met329Val). Following the initiation of a mitochondrial cocktail, the patient showed substantial clinical improvement. This case emphasizes that MTDPS5 should be considered in infants with unexplained encephalomyopathy, even when initial findings are normal, underscoring the necessity of early WES to guide clinical management.<\/jats:p>","DOI":"10.1093\/omcr\/omag172","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T11:41:22Z","timestamp":1788522082000},"source":"Crossref","is-referenced-by-count":0,"title":["Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8597-6164","authenticated-orcid":false,"given":"Mohammad Obada","family":"Alsadi","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Damascus University , Damascus ,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youssef","family":"Heikal","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, October 6 University , Giza ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Al-Hasani","sequence":"additional","affiliation":[{"name":"Faculty of medicine, Jordan University of Science and Technology , Irbid ,","place":["Jordan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Al Khasawneh","sequence":"additional","affiliation":[{"name":"Faculty of medicine, Jordan University of Science and Technology , Irbid ,","place":["Jordan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aia","family":"Nasab","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Kalamoon , Deratiah ,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heba","family":"Hrizat","sequence":"additional","affiliation":[{"name":"Hebron University, West Bank- Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3624-4946","authenticated-orcid":false,"given":"Fatema","family":"Almoustafa","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Al Andalus University for Medical Sciences , Tartus ,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barah","family":"Hussain","sequence":"additional","affiliation":[{"name":"Children\u2019s University Hospital , Damascus ,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,9,14]]},"reference":[{"key":"2026091415525423300_ref1","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.mito.2022.06.004","article-title":"Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: a report of 6 cases with 4 novel variants","volume":"65","author":"AlMenabawy","year":"2022","journal-title":"Mitochondrion"},{"key":"2026091415525423300_ref2","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1007\/s13311-013-0177-6","article-title":"Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options","volume":"10","author":"El-Hattab","year":"2013","journal-title":"Neurotherapeutics"},{"key":"2026091415525423300_ref3","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2024.1394150","article-title":"Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, 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mitochondrial medicine society","volume":"17","author":"Parikh","year":"2015","journal-title":"Genet Med"},{"key":"2026091415525423300_ref10","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s41582-018-0101-0","article-title":"POLG-related disorders and their neurological manifestations","volume":"15","author":"Rahman","year":"2019","journal-title":"Nat Rev Neurol"},{"key":"2026091415525423300_ref11","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/j.ymgme.2016.11.005","article-title":"Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion","volume":"120","author":"Huang","year":"2017","journal-title":"Mol Genet Metab"}],"container-title":["Oxford Medical Case 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