A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency |
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| Authors: | Touma E H Rashed M S Vianey-Saban C Sakr A Divry P Gregersen N Andresen B S |
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| Affiliation: | Laboratory of Professor Loiselet, Faculty of Medicine, University St Joseph, Damascus Street, PO Box 11-5076, Beirut, Lebanon. loiselet@dm.net.lb |
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| 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. |
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