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The child's clinical course and neuroradiological findings increasingly deviated from the known clinical and neuroradiological spectrum of propionic acidemia. A rapid trio exome sequencing identified <jats:italic>SLC19A3<\/jats:italic>\u2010related thiamine metabolism dysfunction syndrome 2 as a second genetic disease. The pathomechanisms of both diseases synergize in the impairment of brain energy metabolism, and the associated clinical phenotypes partially overlap, which explains the severe and atypical course of propionic acidemia in the reported case.<\/jats:p>","DOI":"10.1002\/jmd2.12464","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T10:47:09Z","timestamp":1741776429000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An atypical presentation in a child with propionic acidemia? 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