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10.1016/j.scienta.2008.10.014 12 BolwellG
Symptoms and Clinical Presentations Patients with carnitine biosynthesis disorders may exhibit symptoms such as muscle weakness, hypoglycemia, cardiomyopathy, and liver dysfunction
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Carnitine is required for the transport of long-chain acylcarnitines into the mitochondrial matrix, otherwise they accumulate in the mitochondrial intermembrane space and induce detrimental effects on both mitochondrial respiration and pyruvate metabolism
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