The clinical recognition of mitochondrial disease is often challenging with an ever increasing spectrum of documented phenotypes. In addition to a predominantly "myopathic" or "encephalomyopathic" clinical presentations, patients may present with multi-organ system manifestations in which muscle involvement is only a part. Mitochondrial disease can occur at any age. Organs with a high energy demand are typically affected, including skeletal and cardiac muscle, endocrine organs, kidney, non-mucosal components of the intestinal tract, retina, and the central nervous system. Although effective treatments remain elusive, definitive diagnosis is crucial for determining appropriate symptomatic management as well as an accurate prognosis. Diagnostic difficulty results not only from the broad spectrum of clinical signs and heterogeneity of the diseases, but also from the absence of reliable screening or diagnostic biomarkers that are both sensitive and specific in all cases of mitochondrial disease. Currently extensive laboratory testing needs to be performed. Primary mitochondrial respiratory chain disease is a heterogeneous group of disorders characterized by impaired energy metabolism due to presumed genetically-based oxidative phosphorylation (OXPHOS)dysfunction.
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