Coenzyme Q10 deficiency

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Description from OMIM

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009). The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency See also COQ10D2 (614651), caused by mutation in the PDSS1 gene (607429) on chromosome 10p12; COQ10D3 (614652), caused by mutation in the PDSS2 gene (610564) on chromosome 6q21; COQ10D4 (612016), caused by mutation in the COQ8 gene (ADCK3; 606980) on chromosome 1q42; COQ10D5 (614654), caused by mutation in the COQ9 gene (612837) on chromosome 16q21; COQ10D6 (614650), caused by mutation in the COQ6 gene (614647) on chromosome 14q24; COQ10D7 (616276), caused by mutation in the COQ4 gene (612898) on chromosome 9q34; and COQ10D8 (616733), caused by mutation in the COQ7 gene (601683) on chromosome 16p13. Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; 231680), caused by mutation in the ETFDH gene (231675) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; 208920), caused by mutation in the APTX gene (606350) on chromosome 9p13.

Prevalence of clinical parameters (%)

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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Nephropathy urinary 100 % 17855635 2011-10-18
Ataxia nervous 72 % 17442627 2011-10-11
Cerebellar atrophy nervous 61 % 17442627 2011-10-11
Seizures nervous 50 % 17855635 2011-10-11
Muscle weakness skeletal 44 % 17442627 2011-10-11
Lactate accumulation circulatory 42 % 17442627 2011-10-11
Developmental delay multi 39 % 17442627 2011-10-11
Seizures nervous 39 % 17442627 2011-10-11
Myopathy skeletal 33 % 17442627 2011-10-11
Hypotonia nervous 25 % 17855635 2011-10-11
Neuropathy nervous 25 % 17855635 2011-10-11
Mental retardation nervous 25 % 17442627 2011-10-11
Increased blood CK circulatory 22 % 17442627 2011-10-11
Hearing loss nervous 17 % 17442627 2011-10-11
Short stature multi 14 % 17442627 2011-10-11
Hypotonia nervous 14 % 17442627 2011-10-11
Nephropathy urinary 14 % 17442627 2011-10-11
Myoglobinuria circulatory 11 % 17442627 2011-10-11
Ptosis nervous 8 % 17442627 2011-10-11
Cerebral atrophy nervous 8 % 17442627 2011-10-11
Scoliosis skeletal 8 % 17442627 2011-10-11
Retinitis pigmentosa nervous 8 % 17442627 2011-10-11
Dystonia nervous 8 % 17442627 2011-10-11
Nystagmus nervous 8 % 17442627 2011-10-11
Vomiting digestive 6 % 17442627 2011-10-11
Failure to thrive multi 6 % 17442627 2011-10-11
Myopia nervous 6 % 17442627 2011-10-11
Optic atrophy nervous 6 % 17442627 2011-10-11
Cardiomyopathy circulatory 6 % 17442627 2011-10-11
Exercise intolerance skeletal 6 % 17442627 2011-10-11
Headache nervous 3 % 17442627 2011-10-11
Diarrhea digestive 3 % 17442627 2011-10-11
Cataract nervous 3 % 17442627 2011-10-11
Tubulopathy urinary 3 % 17442627 2011-10-11
Pancreatic insufficiency digestive 3 % 17442627 2011-10-11
Dysphagia digestive 3 % 17442627 2011-10-11
Chorea nervous 3 % 17442627 2011-10-11
Dysarthria nervous 3 % 17442627 2011-10-11
Jaundice digestive 3 % 17442627 2011-10-13

List of references:

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Francesca Diomedi-Camassei, Silvia Di Giandomenico, Filippo M Santorelli, Gianluca Caridi, Fiorella Piemonte, Giovanni Montini, Gian Marco Ghiggeri, Luisa Murer, Laura Barisoni, Anna Pastore, Andrea Onetti Muda, Maria Luisa Valente, Enrico Bertini, Francesco Emma,

Primary coenzyme Q(10) (CoQ(10)) deficiency includes a group of rare autosomal recessive disorders primarily characterized by neurological and muscular symptoms. Rarely, glomerular involvement has been reported. The COQ2 gene encodes the para-hydroxybenzoate-polyprenyl-transferase enzyme of the CoQ(10) synthesis pathway. We identified two patients with early-onset glomerular lesions that harbored mutations in the COQ2 gene. The first patient presented with steroid-resistant nephrotic syndrome at the age of 18 months as a result of collapsing glomerulopathy, with no extrarenal symptoms. The second patient presented at five days of life with oliguria, had severe extracapillary proliferation on renal biopsy, rapidly developed end-stage renal disease, and died at the age of 6 months after a course complicated by progressive epileptic encephalopathy. Ultrastructural examination of renal specimens from these cases, as well as from two previously reported patients, showed an increased number of dysmorphic mitochondria in glomerular cells. Biochemical analyses demonstrated decreased activities of respiratory chain complexes [II+III] and decreased CoQ(10) concentrations in skeletal muscle and renal cortex. In conclusion, we suggest that inherited COQ2 mutations cause a primary glomerular disease with renal lesions that vary in severity and are not necessarily associated with neurological signs. COQ2 nephropathy should be suspected when electron microscopy shows an increased number of abnormal mitochondria in podocytes and other glomerular cells.

Journal of the American Society of Nephrology : JASN - Oct 2007

Infantile and pediatric quinone deficiency diseases.
Agnès Rötig, Julie Mollet, Marlène Rio, Arnold Munnich,

Coenzyme Q10 (CoQ10) plays a pivotal role in oxidative phosphorylation (OXPHOS) as it distributes electrons between the various dehydrogenases and the cytochrome segments of the respiratory chain. Primary coenzyme Q10 deficiency is a rare, but possibly treatable, autosomal recessive condition with four major clinical presentations, an encephalomyopathic form, a generalized infantile variant with severe encephalopathy and renal disease, a myopathic form and an ataxic form. The diagnosis of ubiquinone deficiency is supported by respiratory chain analysis and eventually by the quantification of CoQ10 in patient tissues. We review here the infantile and pediatric quinone deficiency diseases as well as the clinical improvement after oral CoQ10 therapy. The clinical heterogeneity of ubiquinone deficiency is suggestive of a genetic heterogeneity that should be related to the large number of enzymes, and corresponding genes, involved in ubiquinone biosynthesis.

Mitochondrion - Jun 2007