title: A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
abstract: 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.
authors: Laboratory of Professor Loiselet, Faculty of Medicine, University St Joseph, Damascus Street, PO Box 11-5076, Beirut, Lebanon. loiselet@dm.net.lb  
authors: E H
authors: EH
authors: Touma
authors: M S
authors: MS
authors: Rashed
authors: C
authors: C
authors: Vianey-Saban
authors: A
authors: A
authors: Sakr
authors: P
authors: P
authors: Divry
authors: N
authors: N
authors: Gregersen
authors: B S
authors: BS
authors: Andresen
mesh_terms: 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
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain