title: [Metabolic myopathies - an overview].
abstract: Metabolic disorders of energy production characterise the group of rare, mainly autosomal recessively inherited metabolic muscular diseases which are often associated with multi-systemic symptoms. In this report, an update on the clinics, pathophysiology, pathomorphology and current treatment options of metabolic myopathies will be given. Beyond classic phenotypes of these disorders, one should be aware of oligosymptomatic patients who can be easily missed. The relevant gene mutations and the pathophysiology and pathomorphology they cause are now known for almost all these metabolic diseases. Establishing the correct diagnosis has become even more important since highly specific therapy options are now available for at least some of these inherited disorders, e.g. enzyme replacement therapy in Pompe disease.
authors.affiliation: Departments of Pathology and Neurology, Radboud University Nijmegen Medical Center, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Lammens
authors.forename: B
authors.initials: B
authors.lastname: Schoser
mesh_terms: D000328:Adult; D001706:Biopsy; D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006008:Glycogen Storage Disease / Q000145:classification / Q000235:genetics / Q000473:pathology; D006009:Glycogen Storage Disease Type II / Q000145:classification / Q000235:genetics / Q000473:pathology; D006012:Glycogen Storage Disease Type V / Q000145:classification / Q000235:genetics / Q000473:pathology; D006801:Humans; D007124:Immunoenzyme Techniques; D008064:Lipidoses / Q000145:classification / Q000235:genetics / Q000473:pathology; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D008854:Microscopy, Electron; D017240:Mitochondrial Myopathies / Q000145:classification / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000145:classification / Q000235:genetics* / Q000473:pathology*