Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.
A patient is described with subacute necrotizing encephalomyelopathy proven by autopsy. A slight increase of blood pyruvate and lactate levels with an increased lactate/pyruvate ratio and frequently increased beta-hydroxybutyrate/acetoacetate ratio suggested a disorder of mitochondrial oxidation. A cytochrome c oxidase deficiency was shown in peripheral muscle tissue with some residual cytochrome c oxidase activity in heart muscle. Normal cytochrome c oxidase activity was present in liver tissue. Because of the markedly higher levels of pyruvate and lactate in CSF compared with blood and an increased lactate/pyruvate ratio in CSF, there may also have been defective activity of cytochrome c oxidase in brain tissue. After a period of apparently normal development, the child's clinical condition gradually deteriorated and she died at age 6 years due to respiratory insufficiency. This study illustrates the fact that Leigh's disease is not linked to a single inherited molecular defect.
D000090:Acetoacetates / Q000097:blood; D001933:Brain Stem / Q000378:metabolism*; D002648:Child; D003574:Cytochrome c Group / Q000172:deficiency*; D004678:Encephalomalacia / Q000378:metabolism*; D005260:Female; D006801:Humans; D006885:Hydroxybutyrates / Q000097:blood; D008607:Intellectual Disability / Q000378:metabolism; D007773:Lactates / Q000097:blood / Q000134:cerebrospinal fluid; D008928:Mitochondria / Q000378:metabolism; D009132:Muscles / Q000378:metabolism*; D009206:Myocardium / Q000378:metabolism; D011596:Psychomotor Disorders / Q000378:metabolism; D011773:Pyruvates / Q000097:blood / Q000134:cerebrospinal fluid; D013577:Syndrome
D000090:Acetoacetates; D003574:Cytochrome c Group; D006885:Hydroxybutyrates; D007773:Lactates; D011773:Pyruvates