title: Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex.
abstract: Disturbances in substrate oxidations in muscle mitochondria from patients with a suspicion of a mitochondrial myopathy may arise from a deficiency of one or more of the complexes of the respiratory chain or of the pyruvate dehydrogenase complex. However, we found no clear-cut defect in a substantial part of such patients. In this report we discuss some of the other possibilities which could account for the disturbed substrate oxidation rates. Special attention will be paid to defects which are localized outside the respiratory chain, such as defects in post-respiratory chain enzymes, defects in transport mechanisms of the mitochondrial inner or outer membrane, deficiency of cofactors and deficiency of heat-shock protein.
authors.affiliation: Department of Pediatrics, University Hospital Nijmegen, The Netherlands.
authors.forename: F J
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: M
authors.initials: M
authors.lastname: Huizing
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
mesh_terms: D004579:Electron Transport; D004734:Energy Metabolism; D006801:Humans; D008928:Mitochondria / Q000378:metabolism* / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000378:metabolism* / Q000473:pathology; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism*
chemical_list: D011768:Pyruvate Dehydrogenase Complex