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Metabolic Myoglobinuria

  • Nerve and Muscle (LH Weimer, Section Editor)
  • Published:
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Abstract

One large group of hereditary myopathies characterized by recurrent myoglobinuria, almost invariably triggered by exercise, comprises metabolic disorders of two main fuels, glycogen and long-chain fatty acids, or mitochondrial diseases of the respiratory chain. Differential diagnosis is required to distinguish the three conditions, although all cause a crisis of muscle energy. Muscle biopsy may be useful when performed well after the episode of rhabdomyolysis. Molecular genetics is increasingly the diagnostic test of choice to discover the underlying genetic basis.

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Conflict of Interest

Emanuele Barca, Valentina Emmanuele, and Salvatore DiMauro declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Neurology, Columbia University, New York, NY, USA

    Emanuele Barca & Valentina Emmanuele

  2. Department of Neurology, University of Messina, Messina, Italy

    Emanuele Barca

  3. Policlinico Universitario G. Martino, Padiglione E, Second floor, via Consolare Valeria 1, 98125, Messina, Italy

    Emanuele Barca

  4. College of Physicians & Surgeons, Columbia University Medical Center, 4th Floor, Room 424B, 630 West 168th Street, New York, NY, 10032, USA

    Salvatore (Billi) DiMauro

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  1. Emanuele Barca
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  2. Valentina Emmanuele
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  3. Salvatore (Billi) DiMauro
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Correspondence to Salvatore (Billi) DiMauro.

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Barca, E., Emmanuele, V. & DiMauro, S.(. Metabolic Myoglobinuria. Curr Neurol Neurosci Rep 15, 69 (2015). https://doi.org/10.1007/s11910-015-0590-9

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