Abstract
Respiratory chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e., ATP synthesis by the respiratory chain not only occurs in the neuromuscular system, indeed, a number of nonneuromuscular organs and tissues are dependent upon mitochondrial energy supply. For this reason, a respiratory chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age with any mode of inheritance, due to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA).
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Abbreviations
- CoQ :
-
co-enzyme Q
- COX :
-
cytochrome c oxidase
- ETF :
-
electron transfer flavoprotein
- FAD :
-
flavine adenine dinucleotide
- KSS :
-
Kearns-Sayre syndrome
- LHON :
-
Leber's hereditary optic neuroretinopathy
- L/P :
-
factate/pyruvate molar ratio
- MtDNA :
-
mitochondrial DNA
- MELAS :
-
mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
- MERRF :
-
myoclonus epilepsy, ragged red fibres
- MNGIE :
-
mitochondrial myopathy, peripheral neuropathy, encephalopathy and gastro-intestinal disease
- MRS :
-
magnetic resonance spectroscopy
- NADH :
-
reduced nicotinamide adenine dinucleotide
- NARP :
-
neurogenic muscle weakness, ataxia, retinitis pigmentosa
- PDH :
-
pyruvate dehydrogenase
- PEO :
-
progressive external ophthalmoplegia
- RRF :
-
ragged red fibre
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Munnich, A., Rötig, A., Chretien, D. et al. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 155, 262–274 (1996). https://doi.org/10.1007/BF02002711
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DOI: https://doi.org/10.1007/BF02002711