title: Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome).
abstract: Several disorders of oxidative metabolism have been described in association with subacute necrotizing encephalomyelopathy (SNE) or Leigh syndrome. We present an eight-year-old girl with a mild spastic paraparesis and clinical deterioration on intercurrent infections. One sib died of SNE proven by autopsy. Biochemical examination of muscle tissue points to a disturbance in the process of oxidative phosphorylation due to a disturbed oxidation of NADH. The biochemical disorders associated with SNE are reviewed. The relation of SNE to the concepts of encephalomyopathy and mitochondriopathy is discussed.
mesh_terms: D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000378:metabolism*; D002250:Carbon Radioisotopes; D002675:Child, Preschool; D003580:Cytochromes / Q000378:metabolism*; D003576:Electron Transport Complex IV / Q000378:metabolism*; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D008099:Liver / Q000378:metabolism* / Q000473:pathology; D008293:Malates / Q000378:metabolism*; D008297:Male; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D010084:Oxidation-Reduction; D010375:Pedigree; D011773:Pyruvates / Q000378:metabolism*
chemical_list: D002250:Carbon Radioisotopes; D003580:Cytochromes; D008293:Malates; D011773:Pyruvates; D003576:Electron Transport Complex IV