Metabolic muscle disorders in infants and children

Abstract

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.