Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach
- Cite this article as:
- Trijbels, J.M.F., Sengers, R.C.A., Ruitenbeek, W. et al. Eur J Pediatr (1988) 148: 92. doi:10.1007/BF00445910
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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.
Key wordsMitochondrial myopathy Electron transport chain Metabolic screening
nicotinamide adenine dinucleotide (oxidized)
nicotinamide adenine dinucleotide (reduced)