Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q10 deficiency 5

Coenzyme Q10 deficiency type 1 is an autosomal recessive disorder affecting the central nervous system; muscles; and occasionally kidneay, heart, and growth. It is caused by mutations of the COQ9 gene.

Clinical Findings

Five major clinical phenotypes can be distinguished: (1) encephalomyopathic form with ataxia and seizures; (2) multisystem infantile form with encephalopathy, cardiomyopathy, and nephropathy; (3) cerebellar form with cerebellar atrophy and consequentially ataxia; (4) Leigh syndrome with growth retardation; and (5) isolated myopathic form.

Management

The disorder can be successfully treated in some cases by Coenzyme Q10 substitution.

Systematic

Coenzyme Q10 deficiency
Coenzyme Q10 deficiency 1
Coenzyme Q10 deficiency 2
Coenzyme Q10 deficiency 3
Coenzyme Q10 deficiency 4
Coenzyme Q10 deficiency 5
COQ9
Coenzyme Q10 deficiency 6

References:

1.

Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

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2.

Loftus BJ et al. (1999) Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

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3.

Johnson A et al. (2005) COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae.

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4.

Duncan AJ et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

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Update: Sept. 26, 2018