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Review
. 2007 Apr-May;32(4-5):723-7.
doi: 10.1007/s11064-006-9190-z. Epub 2006 Nov 10.

Human coenzyme Q10 deficiency

Catarina M Quinzii  1 , Salvatore DiMauro, Michio Hirano
Affiliations
Review

Human coenzyme Q10 deficiency

Catarina M Quinzii et al. Neurochem Res. 2007 Apr-May.

Abstract

Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may be related to the multiple steps in CoQ(10) biosynthesis. Patients with all forms of CoQ(10) deficiency have shown clinical improvements after initiating oral CoQ(10) supplementation. Thus, early diagnosis is of critical importance in the management of these patients. This year, the first molecular defect causing the infantile form of primary human CoQ(10) deficiency has been reported. The availability of genetic testing will allow for a better understanding of the pathogenesis of this disease and early initiation of therapy (even presymptomatically in siblings of patients) in this otherwise life-threatening infantile encephalomyopathy.

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Figures

Fig. 1
Fig. 1
CoQ10 biosynthetic pathway with eight known biosynthetic enzymes denoted as COQ1-8. CoQ10 is composed of a benzoquinone and a decaprenyl side chain. While the quinone ring is derived from amino acids tyrosine or phenylalanine, the isoprenoid side chain is produced by addition of isopentenyl pyrophosphate molecules to geranylgeranyl pyrophosphate (derived from mevalonate pathway) by decaprenyl diphosphate synthase. After para-hydroxybenzoate and decaprenyl pyrophosphate are produced, at least seven enzymes (encoded by COQ2-8) catalyze condensation, methylation, decarboxylation, and hydroxylation reactions to synthesize CoQ10
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