Coenzyme Q10 deficiency 3
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 PDSS2 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|
Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.[^]
Saiki R et al. (2005) Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.[^]
López LC et al. (2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.[^]
Peng M et al. (2008) Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.[^]
OMIM.ORG articleOmim 610564 [^]