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We reviewed the genetic, clinical, and metabolic aspects of the disease in all known patients, including two novel, unrelated <jats:italic>TRIT1<\/jats:italic> cases with abnormalities in oxidative phosphorylation complexes I and IV in fibroblasts. Taken together the features of all 15 patients, <jats:italic>TRIT1<\/jats:italic> defect could be identified as a potentially recognizable syndrome including myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and variable microcephaly, with normal lactate levels. Half of the patients had oxidative phosphorylation complex measurements and had multiple complex abnormalities.<\/jats:p>","DOI":"10.1002\/jimd.12550","type":"journal-article","created":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T08:03:47Z","timestamp":1662019427000},"page":"1039-1047","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<scp>TRIT1<\/scp> defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels"],"prefix":"10.1002","volume":"45","author":[{"given":"Ewout","family":"Muylle","sequence":"first","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huafang","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center 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