Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q10 deficiency

Coenzyme Q10 deficiency is a heterogeneous autosomal recessive mitochondrial encephalomyopathy. There is no clear genotype-phenotype correlation. Clinical symptoms include the central nervous system, muscles, heart, kidney and growth.

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.

Diagnosis

In about 50% of cases, ubiquinon levels are low in muscle cells.

Management

The disorder can be successfully treated in some cases by Coenzyme Q10 substitution. The dosis is usually 5 to 30 mg/kg. In some cases, however, if severe neurological symptoms are present, doses of up to 3g/d can be used in adults.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
Coenzyme Q10 deficiency
Coenzyme Q10 deficiency 1
COQ2
Coenzyme Q10 deficiency 2
PDSS1
Coenzyme Q10 deficiency 3
PDSS2
Coenzyme Q10 deficiency 4
COQ8A
Coenzyme Q10 deficiency 5
COQ9
Coenzyme Q10 deficiency 6
COQ6
Congenital disorder of glycosylation
Disorders of cobalamin metabolism
Disorders of iron metabolism
Disorders of urate metabolism
Disturbances in phosphate metabolism
Disturbances of glucose metabolism
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

Lai CH et al. (2000) Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

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2.

Iiizumi M et al. (2002) Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.

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3.

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

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4.

Auré K et al. (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect.

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5.

Mollet J et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

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6.

Lagier-Tourenne C et al. (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

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7.

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

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8.

Saiki R et al. (2005) Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.

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9.

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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10.

Forsgren M et al. (2004) Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.

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11.

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

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12.

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

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13.

López-Martín JM et al. (2007) Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

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14.

Hara K et al. (2007) Multiplex families with multiple system atrophy.

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15.

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

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16.

None (2013) Mutations in COQ2 in familial and sporadic multiple-system atrophy.

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17.

López LC et al. (2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

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18.

Peng M et al. (2008) Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

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19.

Loftus BJ et al. (1999) Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

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20.

Johnson A et al. (2005) COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae.

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21.

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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22.

Heeringa SF et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

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23.

OMIM.ORG article

Omim 609825 [^]
24.

Orphanet article

Orphanet ID 139485 [^]
25.

Wikipedia article

Wikipedia EN (Coenzyme_Q10_deficiency) [^]
Update: May 9, 2019