A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency. Issue 1 (1st January 2001)

• Record Type: Journal Article
• Authors: Touma, E H; Rashed, M S; Vianey-Saban, C; Sakr, A; Divry, P; Gregersen, N; Andresen, B S
• Is Part Of: Archives of disease in childhood. Volume 84:Issue 1(2001)
• Page Start: 58
• Page End: 60
• Publication Date: 2001-01-01
• Subjects: fatty acids -- newborn screening -- cardiomyopathy -- mass spectrometry; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.84.1.58
• Languages: English
• ISSNs: 0003-9888

Abstract

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.