Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q10 deficiency 6

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 COQ6 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
Coenzyme Q10 deficiency 6
COQ6

References:

1.

Heeringa SF et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

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Update: Sept. 26, 2018