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Possible sites of defects leading to synergistic heterozygosity in disorders of energy metabolism. Multiple enzymes must function together to produce optimum energy output. In the first patient described in the text, heterozygous mutations in ACADVL and mitochondrial HADHA were identified (red arrows). We have previously described patients with symptoms of energy deficiency and heterozygous mutations in fatty acid oxidation and the electron transport chain. Adapted from [61].
