Classification of mitochondrial disorders

A clear delimitation of mitochondrial metabolic diseases is difficult, more frequently occurring combinations of symptoms were classified as mitochondrial syndrome (Table 1). The disease patterns are not associated with these syndromes, especially in children. Instead, they occur rather unspecifically as encephalomyopathies, with or without the involvement of other organs.

An in-depth delimitation of mitochondrial disorders or a complete schedule of the syndrome can be found in the guidelines section.

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Table 1: Examples of mitochondrial syndromes