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A patient with lactic acidaemia and cytochrome oxidase deficiency

✍ 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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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

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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