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A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
  1. E H Toumaa,
  2. M S Rashedb,
  3. C Vianey-Sabanc,
  4. A Sakrd,
  5. P Divryc,
  6. N Gregersene,
  7. B S Andresene
  1. aLaboratory of Professor Loiselet, Faculty of Medicine, University St Joseph, Damascus Street, PO Box 11-5076, Beirut, Lebanon, bMetabolic Screening Laboratory, King Faisal Specialist Hospital, Riyadh, Saudi Arabia, cLaboratory of Pediatric Biochemistry, Hôpital Debrousse, Lyon, France, dAnalytical Testing Laboratory, Beirut, Lebanon, eResearch Unit for Molecular Medicine and Aarhus University Hospital, Aarhus, Denmark
  1. Dr Touma email:loiselet{at}dm.net.lb

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.

  • fatty acids
  • newborn screening
  • cardiomyopathy
  • mass spectrometry

https://doi.org/10.1136/adc.84.1.58

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