What Is Coenzyme Q10 Deficiency?

Co-Enzyme Q10 Deficiency is a clinical heterogeneous autosomal recessive disease. It is caused by mutations in the protein encoded by the coenzyme Q gene, which is directly involved in the synthesis. Coenzyme Q10 (CoQ10) or ubiquinone is a mobile lipophilic key electron carrier, which plays a key role in the electron transport of the mitochondrial inner membrane respiratory chain. The disease has five main phenotypes, but the molecular basis of the disease in most patients has not been determined and there is no clear genotype / phenotype correlation. Phenotypes include: 1) encephalomyopathic seizures and ataxia; 2) multi-type infantile encephalopathy, cardiomyopathy and renal failure; 3) mainly cerebellar ataxia and cerebellar atrophy; 4) thunder Syndrome and stunted growth; 5) an isolated form of myopathy. Correct diagnosis is important because some patients may experience a good response to coenzyme Q10 treatment. ^[1]

Coenzyme Q10 deficiency

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Chinese name

Coenzyme Q10 deficiency

Foreign name

Co-Enzyme Q10 Deficiency

Category

disease

the reason

Coenzyme Q gene mutation

Classification

Brain muscle type

Co-Enzyme Q10 Deficiency is a clinical heterogeneous autosomal recessive disease. It is caused by mutations in the protein encoded by the coenzyme Q gene, which is directly involved in the synthesis. Coenzyme Q10 (CoQ10) or ubiquinone is a mobile lipophilic key electron carrier, which plays a key role in the electron transport of the mitochondrial inner membrane respiratory chain. The disease has five main phenotypes, but the molecular basis of the disease in most patients has not been determined and there is no clear genotype / phenotype correlation. Phenotypes include: 1) encephalomyopathic seizures and ataxia; 2) multi-type infantile encephalopathy, cardiomyopathy and renal failure; 3) mainly cerebellar ataxia and cerebellar atrophy; 4) thunder Syndrome and stunted growth; 5) an isolated form of myopathy. Correct diagnosis is important because some patients may experience a good response to coenzyme Q10 treatment. ^[1]