A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
Open Access
- 1 January 2001
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 84 (1), 58-60
- https://doi.org/10.1136/adc.84.1.58
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.Keywords
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