Primary coenzyme Q10 deficiency
Primary coenzyme Q10 deficiency is a disorder involving a shortage of coenzyme Q10, which can severely affect the brain, muscles, and kidneys.
Overview
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. The severity and age of onset vary widely, ranging from life-threatening infantile encephalomyopathy to adult-onset ataxia.
Symptoms
- Neurological: Ataxia (coordination and balance issues), seizures, intellectual disability, hypotonia, dystonia, spasticity, nystagmus, vision loss, and sensorineural hearing loss.
- Kidney:Nephrotic syndrome, which can lead to proteinuria, hypercholesterolemia, ascites, swelling, hematuria, and potentially irreversible end-stage renal disease.
- Heart: A type of heart disease that enlarges and weakens the heart muscle (cardiomyopathy).
Causes
The condition is caused by mutations in COQ genes (such as COQ2, COQ4, COQ6, COQ8A, and COQ8B), which are involved in the synthesis of coenzyme Q10. Coenzyme Q10 is essential for energy production (oxidative phosphorylation), pyrimidine synthesis, and acting as an antioxidant. A deficiency impairs these processes, causing cells to malfunction.
Inheritance
This condition is inherited in an autosomal recessive pattern, meaning both copies of a gene in each cell have mutations.