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[edit]

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[edit]

Classification|

* OMIM: 607426 614650 616276
* MeSH: C564403

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External resources|

* Orphanet: 255249

* 8th Conference of the International Coenzyme Q10 Association

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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

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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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