A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
A patient with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is reported. He had a severe neonatal presentation and cardiomyopathy. He was found to be homozygous for a severe mutation with no residual enzyme activity. Tandem mass spectrometry on dried blood spots revealed increased long chain acylcarnitines. VLCAD enzyme activity was severely decreased to 2% of control levels. Dietary management consisted of skimmed milk supplemented with medium chain triglycerides and L-carnitine. Outcome was good and there was no acute recurrence.
Touma
E H
EH
Laboratory of Professor Loiselet, Faculty of Medicine, University St Joseph, Damascus Street, PO Box 11-5076, Beirut, Lebanon. loiselet@dm.net.lb  
Rashed
M S
MS
Vianey-Saban
C
C
Sakr
A
A
Divry
P
P
Gregersen
N
N
Andresen
B S
BS
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D009202:Cardiomyopathies / Q000178:diet therapy / Q000201:enzymology* / Q000235:genetics; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013058:Mass Spectrometry; D009154:Mutation; D011379:Prognosis
D044942:Acyl-CoA Dehydrogenase, Long-Chain