Abstract
Red cell glutathione has been assayed in a family affected by Leber's optic atrophy. The results are in agreement with a defective cyanide metabolism. The transmission mechanism of the disease is discussed. Lastly, a preventive and therapeutic approach is proposed.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Cyanides / metabolism
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Cysteine / therapeutic use
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Diet
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Erythrocytes / metabolism*
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Glutathione / blood*
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Humans
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Hydroxocobalamin / therapeutic use
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Male
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Metabolism, Inborn Errors / drug therapy
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Methionine / therapeutic use
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Optic Atrophy / blood*
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Optic Atrophy / drug therapy
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Optic Atrophy / genetics
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Pedigree
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Smoking
Substances
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Cyanides
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Methionine
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Glutathione
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Cysteine
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Hydroxocobalamin