Coenzyme Q10 deficiency 5
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 COQ9 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.[^]
Loftus BJ et al. (1999) Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.[^]
Johnson A et al. (2005) COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae.[^]
Duncan AJ et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.[^]
OMIM.ORG articleOmim 614654 [^]