title: Infantile and pediatric quinone deficiency diseases.
abstract: Coenzyme Q10 (CoQ10) plays a pivotal role in oxidative phosphorylation (OXPHOS) as it distributes electrons between the various dehydrogenases and the cytochrome segments of the respiratory chain. Primary coenzyme Q10 deficiency is a rare, but possibly treatable, autosomal recessive condition with four major clinical presentations, an encephalomyopathic form, a generalized infantile variant with severe encephalopathy and renal disease, a myopathic form and an ataxic form. The diagnosis of ubiquinone deficiency is supported by respiratory chain analysis and eventually by the quantification of CoQ10 in patient tissues. We review here the infantile and pediatric quinone deficiency diseases as well as the clinical improvement after oral CoQ10 therapy. The clinical heterogeneity of ubiquinone deficiency is suggestive of a genetic heterogeneity that should be related to the large number of enzymes, and corresponding genes, involved in ubiquinone biosynthesis.
authors: INSERM U 781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France. roetig@necker.fr
authors: Agnès
authors: A
authors: Rötig
authors: Julie
authors: J
authors: Mollet
authors: Marlène
authors: M
authors: Rio
authors: Arnold
authors: A
authors: Munnich
mesh_terms: D002648:Child; D002675:Child, Preschool; D003067:Coenzymes / Q000172:deficiency / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008928:Mitochondria / Q000378:metabolism; D008954:Models, Biological; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D010100:Oxygen / Q000378:metabolism; D010101:Oxygen Consumption; D013386:Succinates / Q000378:metabolism; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000235:genetics / Q000378:metabolism
chemical_list: D003067:Coenzymes; D013386:Succinates; D014451:Ubiquinone; C024989:coenzyme Q10; D010100:Oxygen