Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver
Corresponding Author
P.M.M. Van Erven
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
P.M.M. van Erven, M.D. Institute of Neurology St. Radboud University Hospital P.O. Box 9101 6500 HB Nijmegen The NetherlandsSearch for more papers by this authorF.J.M. Gabreëls
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorW. Ruitenbeek
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorM.R. Den Hartog
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ.C. Fischer
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorW.O. Renier
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ.M.F. Trijbels
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ.L. Slooff
Institute of Pathology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorA.J.M. Janssen
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorCorresponding Author
P.M.M. Van Erven
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
P.M.M. van Erven, M.D. Institute of Neurology St. Radboud University Hospital P.O. Box 9101 6500 HB Nijmegen The NetherlandsSearch for more papers by this authorF.J.M. Gabreëls
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorW. Ruitenbeek
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorM.R. Den Hartog
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ.C. Fischer
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorW.O. Renier
Institute of Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ.M.F. Trijbels
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ.L. Slooff
Institute of Pathology, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorA.J.M. Janssen
Institute of Pediatrics, St. Radboud University Hospital, Nijmegen, The Netherlands
Search for more papers by this authorAbstract
ABSTRACT – We studied a 17-year-old girl with subacute necrotizing encephalomyelopathy (Leigh syndrome). Lactate and pyruvate levels were increased in serum and cerebrospinal fluid. The oxidation rates of all substrates tested, i.e. pyruvate in liver, and pyruvate, malate and 2-oxoglutarate in muscle, were decreased, as was the production of adenosine triphosphate plus creatine phosphate. Cytochrome content was normal. The data imply a defect in oxidative phosphorylation, outside the cytochrome region.
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