When both copies are severely affected, the result is a neonatal metabolic emergency not something that goes undiagnosed into adulthood
Last reviewed: May 12, 2026 Last updated: May 12, 2026 Written by: Jay Hastings , CEO of PlexusDx Jay Hastings is the CEO of PlexusDx, a precision health company focused on genetic testing, blood biomarker insights, and personalized wellness recommendations
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Vitamin B12 is often linked to energy and metabolism, but could it also play a role in weight management
3.3.1 Mitochondrial fusion and regulatory mechanisms Mitochondrial fusion is a cellular self-repair mechanism that combines healthy mitochondria with damaged or mutated mitochondria to repair the damage or compensate for the mitochondrial dysfunction caused by mutations through complementary effects, thus ensuring normal mitochondrial function and maintaining normal cellular physiological activities (Twig and Shirihai, 2011)
