title: Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
abstract: A 5-year-old boy with late-onset very long-chain acyl-CoA-dehydrogenase (VLCAD) deficiency presented with acute cardiomyopathy, myopathy, gross myoglobinuria and normoglycaemia. The clinical course after diagnosis was favourable.
  
  
  CONCLUSIONS
  late-onset VLCAD deficiency may present as acute cardiomyopathy.
authors.affiliation: Clinica Pediatrica II, Istituti Clinici di Perfezionamento, Milano, Italy. Rossella.Parini@unimi.it
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: F
authors.initials: F
authors.lastname: Menni
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
authors.forename: V
authors.initials: V
authors.lastname: Fesslova
authors.forename: D
authors.initials: D
authors.lastname: Melotti
authors.forename: M L
authors.initials: ML
authors.lastname: Massone
authors.forename: E
authors.initials: E
authors.lastname: Lamantea
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: P
authors.initials: P
authors.lastname: Vizziello
authors.forename: R
authors.initials: R
authors.lastname: Gatti
mesh_terms: D000208:Acute Disease; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D017668:Age of Onset; D009202:Cardiomyopathies / Q000175:diagnosis / Q000201:enzymology* / Q000453:epidemiology; D002675:Child, Preschool; D003967:Diarrhea / Q000175:diagnosis; D006801:Humans; D008297:Male
chemical_list: D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain