A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
Arch Dis Child
; 84(1): 58-60, 2001 Jan.
Article
in En
| MEDLINE
| ID: mdl-11124787
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Acyl-CoA Dehydrogenase, Long-Chain
/
Homozygote
/
Cardiomyopathies
Type of study:
Observational_studies
/
Prognostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Arch Dis Child
Year:
2001
Document type:
Article
Affiliation country:
Líbano