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They are generally manageable and typically improve over time
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Most of the mitochondrial oxygen is utilized for ATP production by the mitochondrial electron transport chain (ETC) through oxidative phosphorylation (OXPHOS) [18]
Therefore, if the newborn screening detects low carnitine levels, both the baby and the mother are re-tested, after two weeks, to determine who has PCD.[14] Treatment / Management The mainstay of primary carnitine deficiency involves lifelong treatment with a high dose of oral L-carnitine (100 to 200 mg/kg daily dose in 3 divided doses).[3][4] The oral bioavailability of L-carnitine is 5% to 18%.[5] L-carnitine is a fairly safe medication, and few side effects associated with high doses include diarrhea and intestinal discomfort
Review article: The gut microbiome as a therapeutic target in the pathogenesis and treatment of chronic liver disease
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