Biochemical Diagnosis of Coenzyme Q10 Deficiency

Molecular Syndromology

Simon J.R. Heales¹  Rafael Artuch¹  Delia Yubero¹  John M. Land¹  Iain P. Hargreaves¹  Raquel Montero¹ 

[1] aClinical Biochemistry Department, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain

关键词: Antioxidant;    Cholesterol;    Coenzyme Q₁₀;    Disease;    Mitochondria;    Muscle;    Plasma;    Tissue;   

DOI  :  10.1159/000362390

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown