C Angelini, P A Battistella, A Laverda, S Pierobon-Bormioli, G Salviati, L Vergani
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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.
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