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Article

Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.

Molecular genetics and metabolism - 1 Jan 2023

Breilyn Margo S, Kenny Eimear E, Abul-Husn Noura S

Abstract excerpt

INTRODUCTION: The clinical significance of Short-chain acyl CoA dehydrogenase deficiency (SCADD), caused by biallelic variation in the ACADS gene, is contested. Clinically ascertained individuals have a range of reported metabolic and physical symptoms. Conversely, individuals identified through newborn screening remain overwhelmingly asymptomatic. Two common ACADS variants, c.511C > T (p.Arg171Trp) and c.625G >...

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Share to Acyl-CoA Dehydrogenase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36549199
DOI: 10.1016/j.ymgme.2022.106971
PMCID: PMC10038226

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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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