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Levels of CoQ10 in your body decrease as you age. CoQ10 levels have also been found to be lower in people with certain conditions, such as heart disease, and in those who take cholesterol-lowering drugs called statins. CoQ10 is found in meat, fish and nuts.
In this GeneReview, the term "primary CoQ 10 deficiency" refers to the group of conditions characterized by a reduction of CoQ 10 levels in tissues or cultured cells associated with biallelic pathogenic variants in one of the ten genes involved in the biosynthesis of CoQ 10.
What causes CoQ10 deficiency? Certain health conditions — including heart disease, cancer, diabetes and neurodegenerative diseases, like Parkinson’s or Alzheimer’ s — can lead to lower levels of CoQ10. Age is a factor in your CoQ10 levels as well.
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.
Primary CoQ10 deficiency is a rare autosomal recessive disorder caused by gene defects involved in CoQ biosynthesis with clinical features of steroid-resistant nephrotic syndrome (SNHL), optic atrophy, retinopathy, and encephalopathy. CoQ10 replacement therapy is indicated for this rare disorder.
CoQ10 has a central role in the metabolism of all cells, and a CoQ10 deficiency is linked to the pathogenesis of a range of disorders. Primary CoQ10 deficiency results from genetic defects in the multi-step CoQ10 biosynthetic pathway.
Coenzyme Q10 deficiency is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.