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  • An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria.
  • An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria.
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