{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:58:51Z","timestamp":1777395531858,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T00:00:00Z","timestamp":1670457600000},"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":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial methionyl\u2010tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in <jats:italic>MTFMT<\/jats:italic> have been described in association with clinical presentations with Leigh syndrome, as well with as multisystem involvement (particularly cardiac and ocular involvement). There is a spectrum of severity, but many reported presentations have been milder with a better prognosis than other pathogenic variants associated with Leigh syndrome. We describe the case of a 9\u2010year\u2010old boy homozygous for a pathogenic <jats:italic>MTFMT<\/jats:italic> variant (c.626C\u2009&gt;\u2009T\/p.Ser209Leu) who presented with hypertensive crisis on a background of hyperphagia and visual impairment. His clinical course was complicated by supraventricular tachycardia and severe autonomic instability, requiring intensive care unit admission. He also developed seizures, neurogenic bladder and bowel and had a markedly abnormal eye examination with bilateral optic atrophy. Magnetic resonance image brain showed abnormal high T2\/fluid\u2010attenuated inversion recovery signal within the dorsal brainstem and in the right globus pallidus with some reduced diffusivity. Despite recovery from the acute neurological and cardiac manifestations, he has ongoing deficits in his gross motor skills and continues to have hyperphagia with rapid weight gain (approx. 20\u2009kg in 2\u2009years). Ophthalmic findings are persistent. This case expands the phenotype associated with <jats:italic>MTFMT<\/jats:italic> disease.<\/jats:p>","DOI":"10.1002\/jmd2.12355","type":"journal-article","created":{"date-parts":[[2022,12,9]],"date-time":"2022-12-09T05:59:52Z","timestamp":1670565592000},"page":"150-155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Autonomic instability, arrhythmia and visual impairment in a new presentation of <scp><i>MTFMT<\/i><\/scp>\u2010related mitochondrial disease"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4413-7933","authenticated-orcid":false,"given":"Caoimhe","family":"Howard","sequence":"first","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street  Dublin Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arundhati","family":"Dev\u2010Borman","sequence":"additional","affiliation":[{"name":"Bristol Eye Hospital University Hospitals Bristol and NHS Foundation Trust  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Stokes","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Hospital Waterford  Waterford Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Declan","family":"O'Rourke","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Health Ireland at Temple Street  Dublin Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciara","family":"Gillespie","sequence":"additional","affiliation":[{"name":"Department of Radiology Children's Health Ireland at Temple Street  Dublin Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eilish","family":"Twomey","sequence":"additional","affiliation":[{"name":"Department of Radiology Children's Health Ireland at Temple Street  Dublin Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ina","family":"Knerr","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street  Dublin Republic of Ireland"},{"name":"School of Medicine University College Dublin  Dublin Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritma","family":"Boruah","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street  Dublin Republic of Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2011.07.010"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA118.003838"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100846"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.725"},{"key":"e_1_2_10_6_1","volume-title":"GeneReviews\u00ae","author":"Rahman S","year":"1993"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-52"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.12.010"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000298"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2013.03.002"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.06.045"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx182"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12355","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12355","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12355","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T22:57:29Z","timestamp":1692313049000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,8]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/jmd2.12355"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12355","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,8]]},"assertion":[{"value":"2022-09-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}