Coenzyme Q10 deficiency

Medical condition

Coenzyme Q₁₀ deficiency
Other names	Leigh 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.^[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

8th Conference of the International Coenzyme Q₁₀ Association

v t e Disorders of citric acid cycle and electron transport chain
Citric acid cycle	Pyruvate dehydrogenase deficiency Fumarase deficiency
Electron transport chain	Coenzyme Q10 deficiency Björnstad syndrome GRACILE syndrome Leigh disease

v t e Mitochondrial diseases
Carbohydrate metabolism	PCD PDHA
Primarily nervous system	Leigh disease LHON NARP
Myopathies	KSS Mitochondrial encephalomyopathy MELAS MERRF PEO
No primary system	DAD MNGIE Pearson syndrome
Chromosomal	OPA1 Kjer's optic neuropathy SARS2 HUPRA syndrome TIMM8A Mohr–Tranebjærg syndrome
see also mitochondrial proteins

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