A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

Authors
Touma, EH Rashed, MS Vianey-Saban, C Sakr, A Divry, P Gregersen, N Andresen, BS
Citation
Eh. Touma et al., A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency, ARCH DIS CH, 84(1), 2001, pp. 58-60
Citations number
6
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
ARCHIVES OF DISEASE IN CHILDHOOD
ISSN journal
00039888 → ACNP
Volume
84
Issue
1
Year of publication
2001
Pages
58 - 60
Database
ISI
SICI code
0003-9888(200101)84:1<58:ASGWFO>2.0.ZU;2-I
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 activ ity. 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.