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Article

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

Muscle & nerve - 1 Mar 2009

Shchelochkov Oleg, Wong Lee-Jun, Shaibani Aziz, Shinawi Marwan

Abstract excerpt

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of metabolism characterized by impaired mitochondrial beta-oxidation of fatty acids with a chain length between 14 and 18 carbons. While expansion of newborn screening has improved our ability to dete...

Read the complete abstract on PubMed

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Source

Identifiers

PMID: 19208414
DOI: 10.1002/mus.21157

Genes

ACADVL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19208414-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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