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Emergency management of inherited metabolic diseases
Some people are genetically predisposed to producing more TMA when they consume L-carnitine, leading to a fishy odor
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We know that the mutation in MELAS impairs the assembly of protein complexes in the respiratory chain, resulting in impaired mitochondrial energy production, microvascular angiopathy and NO deficiency, which together can impair cerebral vasodilation.3,5 These symptoms can be exacerbated by a compensatory inflammatory response present in critically ill patients
