Children with mitochondrial disorders most commonly are deficient in cytochrome c oxidase (CIV), a protein involved in the electron transport chain the membrane of the mitochondria. The gold standard way of diagnosing CIV deficiency is taking a muscle biopsy and conducting a biochemical analysis on the tissue. Small children…
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A simple blood or urine test, rather than an invasive muscle biopsy, may be all that is needed to diagnose mitochondrial disease in patients with peripheral neuropathy (muscle weakness or a pricking sensation in the extremities) and progressive external…
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