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Clinical presentations and laboratory investigations in respiratory chain deficiency

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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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