Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
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.
Parini
R
R
Clinica Pediatrica II, Istituti Clinici di Perfezionamento, Milano, Italy. Rossella.Parini@unimi.it
Menni
F
F
Garavaglia
B
B
Fesslova
V
V
Melotti
D
D
Massone
M L
ML
Lamantea
E
E
Rimoldi
M
M
Vizziello
P
P
Gatti
R
R
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
D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain