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Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

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@article{27174a80022c4414830216e7cda95837,
title = "Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene",
abstract = "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.",
keywords = "Adult, Carnitine, DNA, Mitochondrial, Electron Transport Complex IV, Humans, Male, Mutation, Myoglobinuria, Recurrence",
author = "Vissing, {Christoffer Rasmus} and Morten Duno and Olesen, {Jess Have} and Jabin Rafiq and Lotte Risom and Ernst Christensen and Flemming Wibrand and John Vissing",
year = "2013",
month = "5",
day = "14",
doi = "10.1212/WNL.0b013e3182929fb2",
language = "English",
volume = "80",
pages = "1908--10",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams & Wilkins",
number = "20",

}

RIS

TY - JOUR

T1 - Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

AU - Vissing, Christoffer Rasmus

AU - Duno, Morten

AU - Olesen, Jess Have

AU - Rafiq, Jabin

AU - Risom, Lotte

AU - Christensen, Ernst

AU - Wibrand, Flemming

AU - Vissing, John

PY - 2013/5/14

Y1 - 2013/5/14

N2 - 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.

AB - 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.

KW - Adult

KW - Carnitine

KW - DNA, Mitochondrial

KW - Electron Transport Complex IV

KW - Humans

KW - Male

KW - Mutation

KW - Myoglobinuria

KW - Recurrence

U2 - 10.1212/WNL.0b013e3182929fb2

DO - 10.1212/WNL.0b013e3182929fb2

M3 - Journal article

VL - 80

SP - 1908

EP - 1910

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 20

ER -

ID: 41953371