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.
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|
Heeringa SF et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.[^]
OMIM.ORG articleOmim 614650 [^]