A patient with lactic acidaemia and cytochrome oxidase deficiency
β Scribed by F. Trijbels; R. Sengers; L. Monnens; A. Janssen; J. Willems; H. Ter Laak; A. Stadhouders
- Book ID
- 105317058
- Publisher
- Springer
- Year
- 1983
- Tongue
- English
- Weight
- 185 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
A 2-day-old girl developed a severe lactic acidosis with a normal lactate/pyruvate ratio and hyperammonaemia. Plasma arginine and citrulline levels were below the limit of detection. In muscle total pyruvate dehydrogenase complex (PDHC) and pyruvate decarboxylase (El) activities were reduced to a fr
A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopathological examination revealed a mitochondrial myopathy. In muscle tissue the cytochrome o