Chapter

Coenzyme Q<sub>10</sub> Deficiency

Shamima Rahman and Mirian C. H. Janssen

in Inherited Metabolic Disease in Adults

Published on behalf of Oxford University Press

Published in print July 2016 | ISBN: 9780199972135
Published online September 2016 | e-ISBN: 9780190463083 | DOI: http://dx.doi.org/10.1093/med/9780199972135.003.0011

Series: Oxford Monographs on Medical Genetics

Coenzyme Q10 Deficiency

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Primary CoQ10 deficiencies are usually diagnosed in childhood, but late-onset forms are recognized. The expression of all clinical symptoms is extremely variable, but six major phenotypes are recognized: (1) encephalomyopathy, seizures, and ataxia; (2) infantile-onset multisystem disease; (3) cerebellar ataxia; (4) isolated myopathy; (5) Leigh syndrome; and (6) isolated nephrotic syndrome. Early treatment with exogenous CoQ10 supplementation may result in a good outcome.

Chapter.  3746 words.  Illustrated.

Subjects: Clinical Genetics

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