Page 52 - Biochemistry PharmD General
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Clinical aspects
Mitochondrial encephalomyopathy
• Mutation in mitochondrial genes that encode protein complexes
of the respiratory chain can cause disease in the brain and
skeletal muscle, being highly dependent on ATP supply.
• This disease is known as mitochondrial encephalomyopathy.
• It is prevalent in 16 out of 100,000.
• The condition is manifested as progressive loss of vision in early
adulthood, epilepsy and muscle weakness.
Management includes supplementation with
• Ubiquinone, in case of Q10 deficiency.
• Succinate, in case of complex I deficiency, where succinate can
directly donate electrons to complex II. 51
