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Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

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Abstract

The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be performed in order to select those patients in whom a skeletal muscle biopsy should be carried out for more specific biochemical assays. The importance of performing in vivo function tests is stressed. The biochemical diagnosis in disorders of the respiratory chain is presented and the application of immunological methods discussed.

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Abbreviations

ATP:

adenosine triphosphate

CoA:

coenzyme A

DCPIP:

2,6-dichlorophenol indophenol

KCN:

potassium cyanide

NAD+ :

nicotinamide adenine dinucleotide (oxidized)

NADH:

nicotinamide adenine dinucleotide (reduced)

PMS:

phenazine methosulfate

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Trijbels, J.M.F., Sengers, R.C.A., Ruitenbeek, W. et al. Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach. Eur J Pediatr 148, 92–97 (1988). https://doi.org/10.1007/BF00445910

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  • DOI: https://doi.org/10.1007/BF00445910

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