Coenzyme Q10 deficiency

Coenzyme Q10 deficiency is one of the few rare genetic kidney disease that has a specific treatment. Genes involved in this condition include PDSS1, PDSS2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B and COQ9. Two abnormal gene copies need to be present to cause disease.

 

The kidney disease associated with this condition has varying severity, and affects individuals at different ages. Affected patients often have large amounts of protein in their urine. Over time, they may develop kidney failure.

 

Treatment with over-the-counter coenzyme Q10 supplements (ubiquinol or ubiquinone) may dramatically decrease protein in the urine. With a decrease in the urine protein, the progression to kidney failure can be significantly delayed or stopped. 

 

Individuals with this condition rarely have hearing defects or heart involvement.

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