title: Biochemical diagnosis of coenzyme q10 deficiency.
abstract: Coenzyme Q10 (CoQ10) deficiency appears to have a particularly heterogeneous clinical presentation. However, there appear to be 5 recognisable clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. However, although useful, clinical symptoms alone are insufficient for the definitive diagnosis of CoQ10 deficiency which relies upon biochemical assessment of tissue CoQ10 status. In this article, we review the biochemical methods used in the diagnosis of human CoQ10 deficiency and indicate the most appropriate tissues for this evaluation.
authors.affiliation: Clinical Biochemistry Department, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Delia
authors.initials: D
authors.lastname: Yubero
authors.affiliation: Clinical Biochemistry Department, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.affiliation: Clinical Biochemistry Department, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.affiliation: Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
authors.forename: John M
authors.initials: JM
authors.lastname: Land
authors.affiliation: Chemical Pathology, Great Ormond Street Childrens Hospital, London, UK.
authors.forename: Simon J R
authors.initials: SJ
authors.lastname: Heales
authors.affiliation: Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
authors.forename: Iain P
authors.initials: IP
authors.lastname: Hargreaves
keywords: Antioxidant; Cholesterol; Coenzyme Q10; Disease; Mitochondria; Muscle; Plasma; Tissue