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In this Review, we highlight the biological functions of mitochondria-localized enzymes from the perspective of understanding\u2014and potentially reversing\u2014the pathophysiology of inherited disorders affecting the homeostasis of the mitochondrial network and cellular metabolism. Using methylmalonic acidemia as a paradigm of complex mitochondrial dysfunction, we discuss how mitochondrial directed-signaling circuitries govern the homeostasis and physiology of specialized cell types and how these may be disturbed in disease. This Review also provides a critical analysis of affected tissues, potential molecular mechanisms, and novel cellular and animal models of methylmalonic acidemia which are being used to develop new therapeutic options for this disease. These insights might ultimately lead to new therapeutics, not only for methylmalonic acidemia, but also for other currently intractable mitochondrial diseases, potentially transforming our ability to regulate homeostasis and health.<\/jats:p>","DOI":"10.1007\/s00018-021-03934-3","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T10:02:53Z","timestamp":1631700173000},"page":"6851-6867","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia"],"prefix":"10.1007","volume":"78","author":[{"given":"Alessandro","family":"Luciani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew C. 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