Coenzyme Q10 deficiency

Coenzyme Q10 deficiency
Other names	Leigh syndrome with nephrotic syndrome
Ubiquinone

Coenzyme Q₁₀ deficiency is a deficiency of coenzyme Q₁₀.

It can be associated with mutations in COQ2 , APTX , PDSS2 , PDSS1 , CABC1 , and COQ9 . ^[1] Some forms may be more treatable than other mitochondrial diseases. ^[2]

References

1. Online Mendelian Inheritance in Man (OMIM): 607426
2. Duncan AJ, Bitner-Glindzicz M, Meunier B, et al. (May 2009). "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease". Am. J. Hum. Genet. 84 (5): 558–66. doi:10.1016/j.ajhg.2009.03.018. PMC   2681001 . PMID   19375058.

External links

• 8th Conference of the International Coenzyme Q₁₀ Association