A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
case_report · Level V
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- Record sourced from PubMed, PMID 11124787.
- Also identified by PMC identifier 1718627.
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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.
Medical subject headings
- Acyl-CoA Dehydrogenase, Long-Chain
- Cardiomyopathies
- Homozygote