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Article

A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.

European journal of pediatrics - 1 Oct 2007

Aliefendioğlu Didem, Dursun Ali, Coşkun Turgay, Akçören Zuhal, Wanders Ronald J A, Waterham Hans R

Abstract excerpt

Here we report a newborn with VLCAD deficiency with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia. The patient was also homozygous for a new missense mutation (R456H). Postmortem examination of the liver, heart and skeletal muscle revealed diffuse lipid accumulation in various amounts. Mild lobular and portal fibrosis as well as severe...

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Share to Hypoglycemia
Share to Acyl-CoA Dehydrogenase, Long-Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lipid Metabolism, Inborn Errors

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Share to Mutation, Missense

Source

Identifiers

PMID: 17206456
DOI: 10.1007/s00431-006-0350-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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