Coenzyme Q10 Deficiency

A rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (UBIQUINONE). There are five major phenotypes: an encephalomyopathic form with SEIZURES and ATAXIA ; a multisystem infantile form with encephalopathy, CARDIOMYOPATHY and RENAL FAILURE; a predominantly cerebellar form with ataxia and cerebellar atrophy; LEIGH SYNDROME with growth retardation; and an isolated myopathic form. The molecular disease mechanism remains unknown, but mutations in a number of genes have been identified, OMIM: 607426

Source last updated 2026-05-24T15:30:05.592Z