- Coenzyme Q10 deficiency
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Coenzyme Q10 deficiency Classification and external resources
UbiquinoneOMIM 607426 Coenzyme Q10 deficiency is a deficiency of Coenzyme Q10.
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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00115-3.
ETC Non-Mendelian inheritance: Mitochondrial diseases (277.87) Carbohydrate metabolism Primarily nervous system Myopathies No primary system Chromosomal see also mitochondrial proteinsB structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkCategories:- Mitochondrial diseases
- TCA and ETC metabolism disorders
- Disease stubs
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