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Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.

Molecular genetics & genomic medicine - 1 Feb 2021

Eleftheriadou Maria, Medici-van den Herik Evita, Stuurman Kyra, van Bever Yolande, Hellebrekers Debby M E I, van Slegtenhorst Marjon, Ruijter George, Barakat Tahsin Stefan

Abstract excerpt

BACKGROUND: Isobutyryl-CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the essential branched-chain amino acid valine and is encoded by ACAD8. ACAD8 mutations lead to isobutyryl-CoA dehydrogenase deficiency (IBDD), which is identified by increased C4-acylcarnitine levels. Affected individuals are either asymptomatic or display a variety of symptoms during infancy,...

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Share to Acyl-CoA Dehydrogenase
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33432785
DOI: 10.1002/mgg3.1595
PMCID: PMC8077115

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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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