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
	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 disorders protein metabolism
	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.	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.

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

3.	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.

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

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

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

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

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

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

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

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

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

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

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

15.	Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

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

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

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

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

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

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

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

23.	OMIM.ORG article Omim 609825

24.	Orphanet article Orphanet ID 139485

25.	Wikipedia article Wikipedia EN (Coenzyme_Q10_deficiency)

Update: June 23, 2025

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