A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
Arch Dis Child
; 84(1): 58-60, 2001 Jan.
Article
em 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acil-CoA Desidrogenase de Cadeia Longa
/
Homozigoto
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Cardiomiopatias
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Revista:
Arch Dis Child
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Líbano