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Updated: Apr 4, 2026

Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
Published on: November 29, 2024
Metabolic Myoglobinuria
Emanuele Barca1, Valentina Emmanuele, Salvatore Billi DiMauro
1Department of Neurology, Columbia University, New York, NY, USA, emanuelebarca@hotmail.com.
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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