Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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.
The disorder can be successfully treated in some cases by Coenzyme Q10 substitution.
Coenzyme Q10 deficiency
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Coenzyme Q10 deficiency 1
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Coenzyme Q10 deficiency 2
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Coenzyme Q10 deficiency 3
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Coenzyme Q10 deficiency 4
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COQ8A
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Coenzyme Q10 deficiency 5
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Coenzyme Q10 deficiency 6
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| 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
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