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Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Clinical biochemistry - 1 Mar 2026

Bandura Andrej, Chandoga Ján, Vengríni Jerguš, Juhosová Miriama, Vavrová Alžbeta, Gregová Elena, Lysinová Miroslava, Mydlová Zuzana, Brennerová Katarína, Šaligová Jana, Maceková Danka, Böhmer Daniel

Abstract excerpt

BACKGROUND: Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive defect of L-isoleucine catabolism caused by pathogenic variants in the ACADSB gene. While early reports described neurological symptoms, expanded newborn screening cohorts have revealed predominantly asymptomatic individuals, raising questions regarding the clinical significance and optimal management. METHODS:...

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Identifiers

PMID: 41722717
DOI: 10.1016/j.clinbiochem.2026.111105

Genes

ACADSB
C5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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