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Metabolic and endocrine disorders 

Metabolic and endocrine disorders
Metabolic and endocrine disorders

David Hilton-Jones

, and Richard Edwards

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date: 28 February 2021

Disturbances of the biochemical or ionic balance of muscle resulting in impaired muscle function can be caused by a disparate group of conditions, including primary inherited disorders affecting enzymes or ion channels, and secondary disorders in which metabolic or endocrine disequilibrium disturbs normal function. This chapter explores the primary metabolic myopathies, mostly autosomal recessive disorders in which lack of activity of a specific enzyme impairs adenosine triphosphate generation. Clinical presentation is with exercised-induced symptoms, but there are fundamental differences in manifestations depending upon whether the enzyme defect affects glycogen/glucose metabolism or fatty acid metabolism, reflecting the very different contributions that these pathways make to energy production depending on the nature of the exercise.

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