Coenzyme Q10 deficiency

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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00115-3. 
Disorders of TCA and ETC
TCA
ETC
Coenzyme Q10 deficiency · Björnstad syndrome/GRACILE syndrome · Leigh's disease

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
PCD · PDHA
Primarily nervous system
LHON · NARP · Leigh's
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