Coenzyme Q10 deficiency 2
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 PDSS1 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|
Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.[^]
OMIM.ORG articleOmim 614651 [^]