Coenzyme Q10 deficiency
Coenzyme Q10 deficiency is a deficiency of Coenzyme Q10.
| Coenzyme Q10 deficiency | |
|---|---|
| Other names | Leigh syndrome with nephrotic syndrome |
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| Ubiquinone | |
It can be associated with COQ2, APTX, PDSS2, PDSS1, CABC1, and COQ9.[1]
Some forms may be more treatable than other mitochondrial diseases.[2]
References
- Online Mendelian Inheritance in Man (OMIM): 607426
- 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
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