Coenzyme Q10 deficiency

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Coenzyme Q10 deficiency
Classification and external resources

Ubiquinone
OMIM 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

  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. 
Disorders of TCA and ETC
TCA
ETC

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

Carbohydrate metabolism
Primarily nervous system
Myopathies
No primary system
Chromosomal
see also mitochondrial proteins
  • B 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
  • trfk



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