title: Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.
abstract: Several patients with lipid storage myopathies have been described, although in most cases the biochemical defect is unclear. A child is reported who presented with severe muscle weakness at age six months. She had lipid storage myopathy due to glutaric aciduria type II. It is probable that her brother died from the same disorder at the age of three months. She has responded well to treatment with a low-fat diet, riboflavin, carnitine and glycine.
authors.affiliation: University of Newcastle upon Tyne.
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: K
authors.initials: K
authors.lastname: Bartlett
authors.forename: J A
authors.initials: JA
authors.lastname: Eyre
authors.forename: D
authors.initials: D
authors.lastname: Gardner-Medwin
authors.forename: M A
authors.initials: MA
authors.lastname: Johnson
authors.forename: J
authors.initials: J
authors.lastname: Fisher
authors.forename: N J
authors.initials: NJ
authors.lastname: Watmough
mesh_terms: D002331:Carnitine / Q000627:therapeutic use; D005260:Female; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D005998:Glycine / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008659:Metabolic Diseases / Q000178:diet therapy / Q000209:etiology*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000178:diet therapy / Q000209:etiology / Q000378:metabolism*; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012256:Riboflavin / Q000627:therapeutic use
chemical_list: D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D002331:Carnitine; D005998:Glycine; D012256:Riboflavin