Co Enzyme Q10 Deficiency

Biosynthesis of Coenzyme Q requires at least 12 genes, and mutations in many of them cause CoQ deficiency.
Primary CoQ10 deficiency encompasses at least five major phenotypes: (1) encephalomyopathy characterized by the triad of recurrent myoglobinuria, brain involvement and ragged red fibers; (2) severe infantile multisystemic disease; (3) cerebellar ataxia; (4) Leigh syndrome with growth retardation, ataxia and deafness; and (5) isolated myopathy. Patients with all forms of CoQ10 deficiency have shown clinical improvements after initiating oral CoQ10 supplementation.

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