Abstract
This is the case of a 41 year old man, suffering general weakness and elevated liver enzymes, sensitive to a treatment with riboflavin and coenzyme Q(10). Tandem mass spectroscopy and molecular analysis reveal a multiple acyl-CoA-dehydrogenase deficiency (MADD) with two novel heterozygote missense mutations of the EFTDH gene.
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MeSH terms
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Adult
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Electron Transport / genetics*
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Electron-Transferring Flavoproteins / deficiency*
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Electron-Transferring Flavoproteins / genetics*
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Genetic Carrier Screening
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Humans
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Iron-Sulfur Proteins / deficiency*
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Iron-Sulfur Proteins / genetics*
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Lipid Metabolism Disorders / diagnosis
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Lipid Metabolism Disorders / enzymology
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Lipid Metabolism Disorders / genetics
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Male
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Mitochondrial Diseases / diagnosis
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Mitochondrial Diseases / enzymology*
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Mitochondrial Diseases / genetics*
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Multiple Acyl Coenzyme A Dehydrogenase Deficiency / diagnosis
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Multiple Acyl Coenzyme A Dehydrogenase Deficiency / enzymology*
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Multiple Acyl Coenzyme A Dehydrogenase Deficiency / genetics*
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Mutation, Missense / genetics*
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Oxidoreductases Acting on CH-NH Group Donors / deficiency*
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Oxidoreductases Acting on CH-NH Group Donors / genetics*
Substances
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Electron-Transferring Flavoproteins
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Iron-Sulfur Proteins
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Oxidoreductases Acting on CH-NH Group Donors
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electron-transferring-flavoprotein dehydrogenase