Double take



Double take

United Mitochondrial Disease Foundation has made two definitive articles available to non-members via Adobe Acrobat Reader. Note: Both articles require AAR to view.

Mitochondrial Cytopathies: Disorders of Oxidative Phosphorylation and Beta-Oxidation Primer by Bruce H. Cohen, M.D.

While this article focuses primarily on respiratory chain disorders, it offers methods of diagnosis and management that have application for many other mitochondrial disorders, including the CPT deficiencies--which are disorders of beta-oxidation.

For example, here are Dr. Cohen’s comments on MCT oil:
“MCT oil is made by the baby formula company Mead-Johnson. It comes in quart bottles, available by prescription and runs about $70 a quart. It can be added like oil over pasta and rice. You can cook with it, but this is a light oil and burns easily. The special rules are explained in a recipe book that you can request from the pharmacist. There are oils sold in health food stores called ‘MCT oil.’ Many of these contain unprocessed coconut oil, which is a 12 carbon triglyceride that requires carnitine for entry into the mitochondria. This would be a waste of money. Unless there is a certified analysis on the label, stay away from these products and stick with the Mead-Johnson brand.”

Anesthesia and Mitochondrial Cytopathies by Bruce H. Cohen. M.D., John Shoffner, M.D., and Glenn DeBoer, M.D.

This article includes a thorough discussion of intravenous anesthetics, inhalation anesthetics, muscle relaxants, and special issues of anesthesia in mitochondrial disorders such as malignant hyperthermia, as well as nine recommendations for using anesthesia safely in patients with known mitochondrial dysfunction.

Mitochondrial Cytopathy in Adults: What We Know So Far July 2001 review by Bruce H. Cohen, M.D., and Deborah R. Gold, M.D. Note: In PDF format. This paper addresses how mitochondrial diseases arise, the presentations and diagnosis of various known mitochondrial diseases, and possible treatments.

Related links:

Mead-Johnson Pharmaceuticals
Basic information on the Mead-Johnson MCT product.

Malignant Hyperthermia Association of the US
Anesthesia protocol for handling MH susceptible patients.

Mitochondrial myopathies and anesthetic complications
University of Minnesota Center for Muscle Disorders.

For more about MCT oil, visit Chain reaction, The fats of life and Family matters.

For more about anesthesia risks, visit CPT deficiency and malignant hyperthermia.

For more about mitochondrial disorders, visit Sausages and cells, Goal tending and Hot picks.

For most people, a regular diet contains all the vitamins one could possibly need and their bodies can make as much of any specific cofactor that it needs. For those with mitochondrial disorders, added vitamins and cofactors can be useful. These supplemental compounds can serve two functions:

possibly enhance enzyme function and result in improved efficiency of energy generation.

serve as antioxidants, which may slow the progression of the disease.

--Bruce H. Cohen, M.D.