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. 2014 Jul;5(3-4):141-6.
doi: 10.1159/000360490.

Clinical presentations of coenzyme q10 deficiency syndrome

Catarina M Quinzii  1 , Valentina Emmanuele  1 , Michio Hirano  1
Affiliations

Clinical presentations of coenzyme q10 deficiency syndrome

Catarina M Quinzii et al. Mol Syndromol. 2014 Jul.

Abstract

Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ10 deficiency predominantly presents in childhood. To date, causative mutations have been identified in a small proportion of patients, making it difficult to identify a phenotype-genotype correlation. Identification of CoQ10 deficiency is important because the disease, in particular muscle symptoms and nephropathy, frequently responds to CoQ10 supplementation.

Keywords: Cerebellar ataxia; Coenzyme Q10 deficiency; Encephalomyopathy; Steroid-resistant nephrotic syndrome.

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Figures

Fig. 1
Fig. 1
Biosynthesis of CoQ10. Mutations in CoQ10 biosynthetic genes (indicated by blue ovals) cause primary CoQ10 deficiency.
See this image and copyright information in PMC

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