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.
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|
|Coenzyme Q10 deficiency 1|
|Coenzyme Q10 deficiency 2|
|Coenzyme Q10 deficiency 3|
|Coenzyme Q10 deficiency 4|
|Coenzyme Q10 deficiency 5|
|Coenzyme Q10 deficiency 6|
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.[^]
Lamperti C et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency.[^]
Auré K et al. (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect.[^]
Mollet J et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.[^]
Lagier-Tourenne C et al. (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.[^]
Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.[^]
OMIM.ORG articleOmim 606980 [^]