Respiratory Chain Disorders

In recent years we have increasingly encountered patients whose clinical and biochemical presentations both suggest a fatty acid oxidation disorder but who do not meet the criteria for any of the recognised P-oxidation defects. These patients may have mild to moderate reductions in fibroblast oxidation of both [9,10-3H]myristate and [9,10-3H]palmitate, often into the VLCAD and LCHAD ranges, but show only a moderate reduction in oxidation of [9,10-3H]oleate (Fig. 5). A number of such patients have presented with hepatic and/or skeletal muscle symptomatology but have subsequently proved to have a definite or probable mitochondrial respiratory chain disorder.

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