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With few exceptions, there is no specialized dietary treatment for mitochondrial disease although some recommend a lower carbohydrate diet (Munnich, 2006).  In pyruvate dehydrogenase complex deficiency, implementation of a ketogenic diet may provide some biochemical stability and when implemented in early infancy might improve long term neurologic outcome (Wexler, 1997).  

A proportion of patients with primary mitochondrial disease show secondary fatty acid ß oxidation dysfunction (Bennett, 1993; Hagenfeldt, 1998; Enns, 2000).  For many primary defects of fatty acid oxidation, especially mild ones, there is no good evidence to suggest that a dietary fat restriction improves metabolic stability or clinical outcome.  Therefore, secondary dysfunction is unlikely to require any significant dietary restriction.  However, when fatty acid oxidation is most active (and defective oxidation most likely to be apparent), i.e., during periods of illness or poor oral intake, it would seem cautious but prudent to implement a high-carbohydrate, low-fat diet for the duration of the illness until calorie intake picks up again.

A ketogenic diet may also be indicated in a patient with intractable seizures and benefit has been documented (Kang, 2007).  However, implementation of such a diet means increasing the flux of substrate through fatty acid oxidation; this could be deleterious in some mitochondrial patients.  Therefore, before implementing a ketogenic diet in patients with mitochondrial disease, testing to rule out fatty acid oxidation dysfunction is warranted.

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