5C53.22
category
Coenzyme Q10 deficiency
Definition
This is a deficiency in a 1,4-benzoquinone, where Q refers to the quinone chemical group, and 10 refers to the number of isoprenyl chemical subunits in its tail. This oil-soluble, vitamin-like substance is present in most eukaryotic cells, primarily in the mitochondria. It is a component of the electron transport chain and participates in aerobic cellular respiration, generating energy in the form of ATP.
Also indexed as
Ataxia - oculomotor apraxia type 1CoQ10 deficiencyCoenzyme Q10 deficiencyDeafness - encephaloneuropathy - obesity - valvulopathyEarly-onset ataxia with oculomotor apraxia and hypoalbuminaemia
Nearby in Disorders of mitochondrial oxidative phosphorylation
5C53.20Mitochondrial DNA depletion syndromes5C53.21Multiple mitochondrial DNA deletion syndromes5C53.23Mitochondrial protein translation defects5C53.24Leigh syndrome5C53.25Isolated ATP synthase deficiency4B4YOther specified diseases of the immune system4B4ZDiseases of the immune system, unspecified