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Article

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pediatric research - 1 Sept 2006

Pedersen Christina B, Bischoff Claus, Christensen Ernst, Simonsen Henrik, Lund Allan M, Young Sarah P, Koeberl Dwight D, Millington David S, Roe Charles R, Roe Diane S, Wanders Ronald J A, Ruiter Jos P N, Keppen Laura D, Stein Quinn, Knudsen Inga, Gregersen Niels, Andresen Brage S

Abstract excerpt

The isobutyryl-CoA dehydrogenase (IBD) enzyme is involved in the degradation of valine. IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD, as the gene responsible for IBD deficiency. Only three individuals homozygou...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16857760
DOI: 10.1203/01.pdr.0000233085.72522.04

Genes

ACAD8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16857760-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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