coenzyme Q10 deficiency

coenzyme Q10 deficiency

An autosomal recessive disorder (OMIM:607426) with three main clinical phenotypes:
(1) Ataxic form with cerebellar atrophy;
(2) Infantile encephalomyopathic form with renal dysfunction; and
(3) Predominantly myopathic form with CNS involvement.

Molecular pathology
Defects of APTX on chromosome 9p13.3, which encodes aprataxin (a DNA-binding protein involved in single- and double-stranded DNA break repair and base excision repair), cause coenzyme Q10 deficiency.
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References in periodicals archive ?
Part I discusses a variety of topics and conditions, including p62 regulation, neurodegeneration, Crohn's disease, atherosclerosis, diabetic cardiomyopathy, hyperglycemic oxidative stress, cellular defense, coenzyme Q10 deficiency, and dioxin toxicity.
Coenzyme Q10 deficiency in patients with Parkinson's disease.
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
The researchers concluded that there was insufficient evidence to prove the etiologic role of coenzyme Q10 deficiency in statin-associated myopathy.
This nutrient is especially critical for anyone on cholesterol-lowering medications, even if there is no heart problem, as these medications cause coenzyme Q10 deficiency, and this nutrient is critical for energy production.
Coenzyme Q10 deficiency is especially common in people taking cholesterol-lowering medications.
The histologic changes resembled abnormalities previously reported in metabolic abnormalities and coenzyme Q10 deficiency.
Those suffering from heart disease often have a coenzyme Q10 deficiency.
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes.
Coenzyme Q10 deficiency and response to supplementation in pediatric and adolescent migraine.