Metabolic Myoglobinuria

Current Neurology and Neuroscience Reports
Emanuele BarcaS DiMauro

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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Citations

Jan 26, 2016·American Journal of Human Genetics·Laura S KremerTobias B Haack
Dec 3, 2016·BMJ Open Sport & Exercise Medicine·Renata S ScalcoNicol C Voermans
Aug 2, 2017·Current Opinion in Neurology·Antonio ToscanoOlimpia Musumeci
Aug 16, 2017·Indian Journal of Clinical Biochemistry : IJCB·Dhiraj J TrivediRakesh Mudaraddi

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