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Review
. 2015 Oct;15(10):69.
doi: 10.1007/s11910-015-0590-9.

Metabolic Myoglobinuria

Emanuele Barca  1 , Valentina Emmanuele, Salvatore Billi DiMauro
Affiliations
Review

Metabolic Myoglobinuria

Emanuele Barca et al. Curr Neurol Neurosci Rep. 2015 Oct.

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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