R. Parini et al., Acute, severe cardiomyopathy as main symptom of late-onset very long-chainacyl-coenzyme A dehydrogenase deficiency, EUR J PED, 157(12), 1998, pp. 992-995
A 5-year-old boy with late-onset very long-chain acyl-CoA-dehydrogenase (VL
CAD) deficiency presented with acute cardiomyopathy, myopathy, gross myoglo
binuria and normoglycaemia. The clinical course after diagnosis was favoura
ble. Conclusion late-onset VLCAD deficiency may present as acute cardiomyop
athy.