{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:06:56Z","timestamp":1790276816404,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T00:00:00Z","timestamp":1727913600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Mitochondrial trifunctional protein (MTP) deficiency is a fatty acid oxidation disorder associated with a spectrum of phenotypes. Patients with high residual enzyme activity tend to have milder phenotypes, and recently, fever\u2010induced episodic myopathy was reported in association with a thermosensitive form of MTP deficiency. We report a 10\u2010year\u2010old male with recurrent episodes of acute flaccid paralysis involving upper and lower extremities in association with bulbar muscle weakness in the context of febrile illness, a phenotype reminiscent of recurrent periodic paralysis. The episodes started at the age of 3\u2009years and have always been followed by full recovery within 1\u20132\u2009weeks with no residual weakness. Whole exome sequencing revealed a homozygous c.2132C\u2009&gt;\u2009T, p.(Pro711Leu) variant in <jats:italic>HADHA<\/jats:italic>. The variant leads to mildly reduced long\u2010chain hydroxyacyl\u2010CoA dehydrogenase (LCHAD) and long\u2010chain ketoacyl\u2010CoA thiolase (LCKAT) enzyme activities and reduced MTP protein expression in patient's fibroblasts when cultured at 37\u00b0C. Enzyme activities and MTP protein expression diminished when fibroblasts were cultured at 40\u00b0C. This is the first published report of confirmed recurrent periodic paralysis as a manifestation of a thermosensitive form of MTP deficiency, and it calls for this condition to be considered when evaluating patients with recurrent periodic paralysis given therapeutic implications.<\/jats:p>","DOI":"10.1002\/ajmg.a.63900","type":"journal-article","created":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T09:53:58Z","timestamp":1727949238000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency"],"prefix":"10.1002","volume":"197","author":[{"given":"Fatema","family":"Al\u2010Amrani","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Department of Child Health Sultan Qaboos University Hospital  Muscat Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos P. 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