Abstract
An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Multiple deficiency of oxidative phosphorylation was found in the patient's liver. We suggest that patients with B(12)-sensitive methylmalonic aciduria who have a milder clinical course should be carefully monitored for long-term complications.
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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Amino Acid Metabolism, Inborn Errors / drug therapy*
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Amino Acid Metabolism, Inborn Errors / genetics
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Amino Acid Metabolism, Inborn Errors / metabolism*
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Citric Acid Cycle / physiology
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DNA, Mitochondrial / chemistry
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DNA, Mitochondrial / genetics
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Electron Transport / physiology
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Fatal Outcome
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Humans
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Liver / metabolism*
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Liver / pathology
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Male
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Methylmalonic Acid / urine*
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Muscle, Skeletal / pathology
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Oxidative Phosphorylation*
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Vitamin B 12 / therapeutic use*
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Vitamin B 12 / urine*
Substances
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DNA, Mitochondrial
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Methylmalonic Acid
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Vitamin B 12