Misplaced Pages

Coenzyme Q10 deficiency

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Medical condition
Coenzyme Q10 deficiency
Other namesLeigh syndrome with nephrotic syndrome
Ubiquinone

Coenzyme Q10 deficiency is a deficiency of coenzyme Q10.

It can be associated with COQ2, APTX, PDSS2, PDSS1, CABC1, and COQ9. Some forms may be more treatable than other mitochondrial diseases.

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

ClassificationD
External resources
Disorders of citric acid cycle and electron transport chain
Citric acid cycle
Electron transport chain
Mitochondrial diseases
Carbohydrate metabolism
Primarily nervous system
Myopathies
No primary system
Chromosomal
see also mitochondrial proteins


Stub icon

This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Misplaced Pages by expanding it.

Categories: