Molecular Syndromology | |
Biochemical Diagnosis of Coenzyme Q10 Deficiency | |
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
【 预 览 】
Files | Size | Format | View |
---|---|---|---|
RO201911300335701ZK.pdf | 244KB | download |