Affiliations: Department of Neurology, Stanford University Medical
Center, Palo Alto, CA, USA
Note: [] Corresponding author: Carolina Tesi Rocha, M.D., Assistant
Professor of Neurology and Neurological Sciences, 750 Welch Rd, Suite 317,
Stanford, CA 94304-1510, USA. Tel.: +1 650 725 5545; Fax: +1 650 723 7299;
E-mail: ctesiroc@stanford.edu
Abstract: Metabolic myopathies refer to a group of heterogeneous hereditary
muscle disorders associated with known enzymatic defects. These conditions
affect the ability of muscle fibers to maintain adequate energy and adenosine
triphosphate (ATP) concentrations. Conventionally these diseases are grouped
into abnormalities of lipid, glycogen, purine or mitochondrial metabolism. This
review will focus on current diagnosis and management of pediatric patients
presenting with a suspected metabolic myopathy.
