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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

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Mitochondrial myopathies commonly present with exercise intolerance typified by breathlessness and fatigue on exercise. In contrast, exercise-induced rhabdomyolysis and myoglobinuria occur rarely. We present a 43-year-old man with a lifelong history of exercise intolerance associated with myalgia and recurrent episodes of exercise-induced myoglobinuria. From early childhood, he had weekly episodes of myoglobinuria, which became infrequent (every 3 months) as an adult. Carnitine transporter defect was suspected, because carnitine levels were low in muscle. During childhood, he was treated with carnitine (4-5 g daily), but without effect. With the advent of acylcarnitines, profiles mimicking but not diagnostic for multiple acyl-CoA dehydrogenase deficiency (MADD) were found. This led to treatment with riboflavin (100 mg/day for 3 years), again without effect. Clinical examination, including echocardiography, revealed no signs of involvement from other organs, and all relatives were asymptomatic.
Original languageEnglish
JournalNeurology
Volume80
Issue number20
Pages (from-to)1908-10
Number of pages3
ISSN0028-3878
DOIs
Publication statusPublished - 14 May 2013

    Research areas

  • Adult, Carnitine, DNA, Mitochondrial, Electron Transport Complex IV, Humans, Male, Mutation, Myoglobinuria, Recurrence

ID: 41953371