Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q10 deficiency 4

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 CABC1 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
COQ8A
Coenzyme Q10 deficiency 5
Coenzyme Q10 deficiency 6

References:

1.

Iiizumi M et al. (2002) Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.

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2.

Lamperti C et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency.

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3.

Auré K et al. (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect.

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4.

Mollet J et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

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5.

Lagier-Tourenne C et al. (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

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6.

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

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7.

OMIM.ORG article

Omim 606980 [^]
Update: May 9, 2019