title: Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.
abstract: BACKGROUND
  Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also called glutaric aciduria type II, is an inherited metabolic disorder resulting from a deficiency in electron transfer flavoprotein (ETF) or of its ubiquinone oxidoreductase (ETF-QO). It usually occurs in the neonatal period or in early infancy and, very rarely, in adolescents and young adult patients.
  
  
  METHODS
  We report the case of a 55-year-old woman who developed a painful subacute myopathy.
  
  
  RESULTS
  Lipid accumulation was found at biopsy. MADD was confirmed by plasma acylcarnitine profile and by assessment of ETF-QO activity in muscle.
  
  
  CONCLUSIONS
  This study demonstrates that metabolic myopathies usually found in infancy may be also diagnosed in older patients. MADD may be easily treated by riboflavin and coenzyme Q10 and therefore should be included in the differential diagnosis of adult-onset painful myopathy.
authors.affiliation: Service de Médecine Interne orientée vers les Maladies Orphelines et Systémiques, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU de Nancy-Hôpitaux de Brabois, Vandoeuvre-lès-Nancy, France. p.kaminsky@chu-nancy.fr
authors.forename: Pierre
authors.initials: P
authors.lastname: Kaminsky
authors.forename: Cecile
authors.initials: C
authors.lastname: Acquaviva-Bourdain
authors.forename: Jacques
authors.initials: J
authors.lastname: Jonas
authors.forename: Lelia
authors.initials: L
authors.lastname: Pruna
authors.forename: Gihan E
authors.initials: GE
authors.lastname: Chaloub
authors.forename: Odile
authors.initials: O
authors.lastname: Rigal
authors.forename: Yves
authors.initials: Y
authors.lastname: Grignon
authors.forename: Christine
authors.initials: C
authors.lastname: Vianey-Saban
mesh_terms: D000367:Age Factors; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008875:Middle Aged; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000150:complications* / Q000175:diagnosis*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000209:etiology*