[Mitochondrial myopathy associated with cytochrome oxidase deficiency].
Six patients are described in whom a deficiency of cytochrome oxidase in muscle tissue was found. Four patients suffered from the syndrome of 'floppy babies' with profound hypotonia, muscle weakness and failure to thrive. They died within the first 6 months of life. Two patients suffered from Leigh's and Alpers' syndrome, respectively. In all patients lactate level was elevated in one or more body fluids, whereas in 4 patients a generalized amino-aciduria was found. With electronmicroscopy structurally abnormal mitochondria were seen in the muscle of 5 out of the 6 patients.
D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D007223:Infant; D007773:Lactates / Q000032:analysis; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009123:Muscle Hypotonia / Q000150:complications / Q000201:enzymology* / Q000473:pathology
D007773:Lactates
Mitochondriële myopathie geassocieerd met cytochroom-oxydase deficiëntie.