Abstract
Mutations in Sco2, a protein involved in copper trafficking to the terminal enzyme of the respiratory chain, cytochrome c oxidase, results in infantile hypertrophic cardioencephalomyopathy. We have recently shown that copper-histidine (Cu-his) supplementation of Sco2-deficient myoblasts rescues COX activity in vitro. Here, we report a patient with SCO 2 mutations and with resolution of severe hypertrophic cardiomyopathy. Weighing up the evidence, the most likely explanation for the improved cardiac function in this patient was the subcutaneous application of Cu-his.
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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Cardiomyopathy, Hypertrophic / blood
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Cardiomyopathy, Hypertrophic / diagnosis
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Cardiomyopathy, Hypertrophic / drug therapy*
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Cardiomyopathy, Hypertrophic / metabolism*
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Carrier Proteins
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Echocardiography
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Electrocardiography
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Fatal Outcome
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Female
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Follow-Up Studies
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Histidine / administration & dosage
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Histidine / analogs & derivatives*
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Histidine / therapeutic use*
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Humans
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Injections, Subcutaneous
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Lactic Acid / blood
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Mitochondria / metabolism*
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Mitochondrial Proteins
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Molecular Chaperones
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Mutation*
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Organometallic Compounds / administration & dosage
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Organometallic Compounds / therapeutic use*
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Proteins / genetics*
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Remission Induction
Substances
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Carrier Proteins
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Mitochondrial Proteins
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Molecular Chaperones
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Organometallic Compounds
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Proteins
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SCO2 protein, human
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Lactic Acid
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Histidine
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copper histidine