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

Christoffer Rasmus Vissing, Morten Duno, Jess Have Olesen, Jabin Rafiq, Lotte Risom, Ernst Christensen, Flemming Wibrand, John Vissing

21 Citationer (Scopus)

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.
OriginalsprogEngelsk
TidsskriftNeurology
Vol/bind80
Udgave nummer20
Sider (fra-til)1908-10
Antal sider3
ISSN0028-3878
DOI
StatusUdgivet - 14 maj 2013

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