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Widespread Multisystem Problems Seen in Mitochondrial Disorders

Mitochondrial disorders are well known to cause widespread multisystem problems. The most energy dependent tissues are the heart, muscle, brain, liver and kidneys and these systems are typically those most affected in energy disorders. However, many other systems can be involved as well. Endocrine problems are among other issues seen frequently in mitochondrial disease. Some of the more common endocrine abnormalities seen in the mito population include hypoglycemia, at times due to growth hormone deficiency or adrenal insufficiency, the latter of which can also present with low blood pressure and hyponatremia and can be found in Pearson’s syndrome. Diabetes is common, particularly in MELAS patients. Poor growth can be seen due to the previously mentioned growth hormone deficiency, Hypothyroidism can present with fatigue and cold intolerance and parathyroid disease can cause calcium abnormalities. Many patients have been found to have 25-hydroxyl vitamin D deficiency requiring supplementation. Because these medical problems can be treated mito patients should be screened for these complications on a routine basis.


Fran Kendall, M.D.

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