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Introduction

 

AN OVERVIEW OF MITOCHONDRIAL DISEASE

Mitochondrial disease patients are among the most complex and challenging of patients.  The disease is progressive in its course, although the rate of progression is completely unpredictable.  The clinical presentation of the disease is heterogeneous, and each patient's disease follows its own unique path, even when more than one family member has the disease due to the same underlying cause.  The symptoms may vary in their severity due to any number of genetic, physiologic and environmental factors.  The disease is multi-systemic; there may be many potential causes for a particular symptom.

Mitochondrial disease is not one disease but actually constitutes a large group of disorders.  All are defects in energy metabolism, i.e., the synthesis and/or utilization of energy generated as ATP through oxidative phosphorylation or aerobic metabolism.

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