Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.
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 oxydase activity was strongly reduced. The content of cytochromes b and aa3 was very low. At autopsy a cardiomyopathy was found.
D000138:Acidosis / Q000473:pathology*; D001344:Autopsy; D003573:Cytochrome b Group / Q000172:deficiency*; D030401:Cytochrome-c Oxidase Deficiency; D003580:Cytochromes / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D007773:Lactates; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008931:Mitochondria, Muscle / Q000473:pathology; D009123:Muscle Hypotonia / Q000473:pathology; D009132:Muscles / Q000201:enzymology*
D003573:Cytochrome b Group; D003580:Cytochromes; D007773:Lactates