A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
作者信息
Touma E H, Rashed M S, Vianey-Saban C, Sakr A, Divry P, Gregersen N, Andresen B S
机构信息
Laboratory of Professor Loiselet, Faculty of Medicine, University St Joseph, Damascus Street, PO Box 11-5076, Beirut, Lebanon.
出版信息
Arch Dis Child. 2001 Jan;84(1):58-60. doi: 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.
摘要
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A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
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