Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Coenzyme Q10 deficiency type 1 is an autosomal recessive disorder affecting the central nervous system; muscles; and occasionally kidneay, heart, and growth. It is caused by mutations of the COQ2 gene. If nephropathy dominates the picture the disease is also called COQ2 nephropathy.
Five major clinical phenotypes can be distinguished: (1) encephalomyopathic form with ataxia and seizures; (2) multisystem infantile form with encephalopathy, cardiomyopathy, and nephropathy; (3) cerebellar form with cerebellar atrophy and consequentially ataxia; (4) Leigh syndrome with growth retardation; and (5) isolated myopathic form.
The disorder can be successfully treated in some cases by Coenzyme Q10 substitution.
Coenzyme Q10 deficiency
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Coenzyme Q10 deficiency 1
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COQ2
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Coenzyme Q10 deficiency 2
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Coenzyme Q10 deficiency 3
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Coenzyme Q10 deficiency 4
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Coenzyme Q10 deficiency 5
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Coenzyme Q10 deficiency 6
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| 1. |
Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 
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| 2. |
Boitier E et al. (1998) A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.
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| 3. |
Sobreira C et al. (1997) Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.
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| 4. |
Ogasahara S et al. (1989) Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.
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| 5. |
Salviati L et al. (2012) Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
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| 6. |
Quinzii CM et al. () Primary and secondary CoQ(10) deficiencies in humans.
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| 7. |
Lalani SR et al. (2005) Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
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| 8. |
Quinzii CM et al. (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
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| 9. |
Gironi M et al. (2004) Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.
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| 10. |
Van Maldergem L et al. (2002) Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
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| 11. |
Di Giovanni S et al. (2001) Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency.
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| 12. |
Musumeci O et al. (2001) Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
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| 13. |
Duncan AJ et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
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| 14. |
Diomedi-Camassei F et al. (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
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| 15. |
Quinzii C et al. (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.
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| 16. |
Salviati L et al. (2005) Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
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| 17. |
Rötig A et al. (2000) Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
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| 18. |
Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
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| 19. |
Lamperti C et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency.
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| 20. |
OMIM.ORG article Omim 607426
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