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

Syndrome Description
Leigh Sub acute necrotizing encephalomyelopathy
MELAS Mitochondrial myopathy, encephalopathy, lactic acidosis stroke-like episodes
MERRF Myoclonic epilepsy and ragged-red fibres
CPEO Chronic progressive external ophthalmoplegia
Kearns Sayre CPEO, Herzreizleitungsstörung, retinopathy
Pearson Sideroblastic anaemia, exocrine pancreas dysfunction
NARP Neuropathy, ataxia, retinitis pigmentosa
LHON Leber's hereditary optic neuropathy
Alpers Progressive infantile polio dystrophy
MNGIE Myoneurogastrointestinal encephalopathy
Barth Cardiomyopathy, neutropenia, myopathy