Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver
| Autor: | P. M. M. van Erven, Antoon J.M. Janssen, Fons J. M. Gabreëls, J. C. Fischer, J.L. Slooff, M. R. Den Hartog, Wim Ruitenbeek, Willy O. Renier, J. M. F. Trijbels |
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| Rok vydání: | 2009 |
| Předmět: |
medicine.medical_specialty
Adolescent Cytochrome Malates Oxidative phosphorylation Creatine chemistry.chemical_compound Internal medicine Pyruvic Acid medicine Humans Lactic Acid Phosphorylation Leigh disease Pyruvates biology Brain Diseases Metabolic Muscles Brain Skeletal muscle General Medicine medicine.disease Enzymes Lactic acid Endocrinology medicine.anatomical_structure Liver Spinal Cord Neurology chemistry Lactates biology.protein Ketoglutaric Acids Female Neurology (clinical) Pyruvic acid Leigh Disease Oxidation-Reduction Adenosine triphosphate |
| Zdroj: | Acta Neurologica Scandinavica. 72:36-42 |
| ISSN: | 1600-0404 0001-6314 |
| DOI: | 10.1111/j.1600-0404.1985.tb01545.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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