coenzyme Q10 deficiency

Coenzyme Q10 deficiency is a genetically heterogeneous metabolic condition characterized by reduced levels of coenzyme Q10, a molecule vital for cellular energy production. It is generally thought to follow an autosomal recessive pattern, although the precise genetic basis is still under investigation. The condition can manifest in childhood and may involve multiple organ systems, with clinical presentations varying widely among affected individuals. Information on prevalence remains limited, and exact estimates are currently unknown.

There is limited information on the characteristic clinical features of coenzyme Q10 deficiency. Some individuals may experience issues related to energy metabolism such as muscle weakness or fatigue, although the full spectrum of symptoms has not been clearly defined. Not all individuals experience all features, and severity varies considerably.

The precise genetic basis of coenzyme Q10 deficiency is still under investigation, and no specific gene has been definitively linked to the condition. Although it is typically suspected to follow an autosomal recessive pattern, the underlying molecular mechanisms remain complex and not fully clarified. As a result, recurrence risks and the specific factors contributing to the condition are not completely understood. Families are encouraged to seek genetic counseling to discuss potential risks and the implications for future children. Associated genes include COQ2, COQ4, PDSS2, COQ7, COQ6.