Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q10 deficiency 1

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.

Clinical Findings

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.

Management

The disorder can be successfully treated in some cases by Coenzyme Q10 substitution.

Systematic

Coenzyme Q10 deficiency
Coenzyme Q10 deficiency 1
COQ2
Coenzyme Q10 deficiency 2
Coenzyme Q10 deficiency 3
Coenzyme Q10 deficiency 4
Coenzyme Q10 deficiency 5
Coenzyme Q10 deficiency 6

References:

1.

Lamperti C et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency.

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2.

Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

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3.

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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4.

Rötig A et al. (2000) Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.

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5.

Salviati L et al. (2005) Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

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6.

Quinzii C et al. (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

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7.

Diomedi-Camassei F et al. (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

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8.

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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9.

Musumeci O et al. (2001) Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.

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10.

Di Giovanni S et al. (2001) Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency.

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11.

Van Maldergem L et al. (2002) Coenzyme Q-responsive Leigh's encephalopathy in two sisters.

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12.

Gironi M et al. (2004) Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.

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13.

Quinzii CM et al. (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.

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14.

Lalani SR et al. (2005) Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

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15.

Quinzii CM et al. () Primary and secondary CoQ(10) deficiencies in humans.

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16.

Salviati L et al. (2012) Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

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17.

Ogasahara S et al. (1989) Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.

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18.

Sobreira C et al. (1997) Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.

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19.

Boitier E et al. (1998) A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

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20.

OMIM.ORG article

Omim 607426 [^]
Update: April 29, 2019