Abstract
Children and adults with metabolic myopathies have underlying deficiencies of energy
production, which may result in dysfunction of muscle or other energy-dependent tissues,
or both. Patients with disorders of glycogen, lipid, or mitochondrial metabolism in
muscle may present with dynamic findings (i.e., exercise intolerance, reversible weakness,
and myoglobinuria) or progressive muscle weakness, or both. In this first part of
the review, we present a brief description of energy metabolism in muscle, a simplified
overview of the clinical and laboratory evaluation of the patient with suspected metabolic
myopathy, and a diagnostic algorithm aimed at predicting the nature of the underlying
biochemical abnormality. The goal is to simplify a complex field of neuromuscular
disease and thus lead to early recognition and treatment of these disorders.
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Article info
Publication history
Accepted:
October 11,
1999
Received:
May 13,
1999
Identification
Copyright
© 2000 Elsevier Science Inc. Published by Elsevier Inc. All rights reserved.
