{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T06:58:05Z","timestamp":1781161085162,"version":"3.54.1"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T00:00:00Z","timestamp":1781136000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Hum. Neurosci."],"abstract":"<jats:p>\n                    <jats:bold>Background<\/jats:bold>\n                    A 27-year-old male with perinatal hypoxia presented with global developmental delay, progressive hearing loss, ataxia, dysarthria, and intellectual disability. Whole-exome sequencing revealed compound heterozygous ACAD9 variants: c.456del (p.Ile153Serfs*46) and c.869G\u202f&amp;gt;\u202fA (p.Gly290Glu). Brain MRI showed bilateral cerebellar atrophy and a prominent cisterna magna. OCT confirmed optic atrophy. The diagnosis of mitochondrial encephalomyopathy (complex I deficiency type 20) was established. This report expands the known genetic spectrum associated with mitochondrial encephalomyopathy and underscores the critical role of genomic sequencing in diagnosing atypical, slowly progressive multisystem disorders.\n                  <\/jats:p>","DOI":"10.3389\/fnhum.2026.1828023","type":"journal-article","created":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T06:20:12Z","timestamp":1781158812000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Mitochondrial encephalomyopathy caused by a novel ACAD9 mutation: a case report"],"prefix":"10.3389","volume":"20","author":[{"given":"Shuo","family":"Li","sequence":"first","affiliation":[{"name":"The First Clinical Medical College of Anhui University of Chinese Medicine, The First Affiliated Hospital of Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yijun","family":"Li","sequence":"additional","affiliation":[{"name":"The First Clinical Medical College of Anhui University of Chinese Medicine, The First Affiliated Hospital of Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonghua","family":"Chen","sequence":"additional","affiliation":[{"name":"Shuguang Anhui Hospital Affiliated to Shanghai University of Traditional Chinese Medicine (The First Affiliated Hospital West District of Anhui University of Chinese Medicine)","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"357","DOI":"10.12809\/hkmj133673","article-title":"A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant","volume":"19","author":"Ching","year":"2013","journal-title":"Hong Kong Med. 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Neurosci."},{"key":"ref10","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1186\/s13023-018-0784-8","article-title":"Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?","volume":"13","author":"Repp","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref11","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1016\/j.nmd.2017.02.005","article-title":"Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency","volume":"27","author":"Schrank","year":"2017","journal-title":"Neuromuscul. 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