title: Metabolic myopathies.
abstract: The term metabolic myopathy refers to a heterogeneous group of conditions that have in common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Most recognized metabolic myopathies are considered primary, represent inborn errors of metabolism, and are associated with known or postulated defects that affect the ability of muscle fibers to maintain adequate ATP concentrations. Traditionally, these diseases are grouped into abnormalities of glycogen, lipid, purine, and mitochondrial biochemistry. This discussion reviews the basic metabolic pathways that regulate normal muscle function; recent observations involving glycogen storage diseases, carnitine deficiency states, and myoadenylate deaminase deficiencies; and lastly, newer techniques available to assess patients with myopathic disorders.
authors.affiliation: Medical College of Wisconsin, Milwaukee.
authors.forename: R L
authors.initials: RL
authors.lastname: Wortmann
mesh_terms: D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D009135:Muscular Diseases / Q000378:metabolism*