Fatal lipid storage with abnormal mitochondria in an infant.
Biochemical, electron microscopic observations in muscle and liver of an infant dying at 20 months of age of a mitochondrial myopathy are described. Biochemical analysis of tissues revealed low levels of free, esterified and total carnitine and marked decrease of succinic-dehydrogenase activity while cytochrome c-oxidase was normal. Ultrastructural data showed a megaconial myopathy.
D001928:Brain Diseases, Metabolic / Q000201:enzymology / Q000473:pathology*; D002331:Carnitine / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000473:pathology*; D008297:Male; D008928:Mitochondria / Q000648:ultrastructure*; D008930:Mitochondria, Liver / Q000648:ultrastructure; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000378:metabolism
D006003:Glycogen; D013385:Succinate Dehydrogenase; D002331:Carnitine