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Article

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

Archives of disease in childhood - 1 Jan 2001

Touma E H, Rashed M S, Vianey-Saban C, Sakr A, Divry P, Gregersen N, Andresen B S

Abstract excerpt

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...

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Share to Acyl-CoA Dehydrogenase, Long-Chain
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11124787
DOI: 10.1136/adc.84.1.58
PMCID: PMC1718627

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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