Diagnostic work up

Evaluation of a suspected mitochondrial disease requires consideration of the symptoms, the medical as well as family history and additional physical and neurological testing. Defects in mitochondrial metabolism may lead to an accumulation of metabolites such as lactate and alanine. They can easily be measured enzymatically in blood, liquor or urine as an index of impaired pyruvate metabolism.

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• Diagnosis

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• Ergometry

• Apparative diagnostics

• Biopsy

• Biochemical investigations

• Morphology

• Molecular genetics