Mitochondrial Disorders

There are many diseases that are included in mitochondrial disorders. They often share common features.


a.k.a. mitochondrial cytopathies, mitochondrial neurological disorders

Subtypes of mitochondrial disorders:


Based on Genetics +muscle biopsy +clinical +other tests

Muscle biopsy:

False negatives can occur
HE: angulated atrophic fibres, subsarcolemmal granular appearance. GMT: ragged red fibres. COX: COX deficient fibres
EM: pleomorphic mitochondria, subsarcolemmal mitochondria
NCS/EMG: Axonal peripheral neuropathy

Findings on investigations:

OGTT: diabetes mellitus
Fundoscopy: retinitis pigmentosa
Lactic acid: increased
Abdominal X-ray: intestinal pseudoobstruction

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