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.


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 article

Omim 606980 [^]
Update: May 9, 2019