PT  - JOURNAL ARTICLE
AU  - E H Touma
AU  - M S Rashed
AU  - C Vianey-Saban
AU  - A Sakr
AU  - P Divry
AU  - N Gregersen
AU  - B S Andresen
TI  - A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
AID  - 10.1136/adc.84.1.58
DP  - 2001 Jan 01
TA  - Archives of Disease in Childhood
PG  - 58--60
VI  - 84
IP  - 1
4099  - http://adc.bmj.com/content/84/1/58.short
4100  - http://adc.bmj.com/content/84/1/58.full
SO  - Arch Dis Child2001 Jan 01; 84
AB  - 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.