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

ABSTRACT:

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 > A (p.Gly209Ser) are known to reduce enzymatic activity with undetermined clinical correlate. We applied a genome-first approach to evaluate the prevalence and clinical consequences of ACADS variants in an ancestrally diverse and unselected patient population.

Material and methods

We used exome sequence data linked to electronic health records (EHRs) to identify clinic

SUBMITTER: Breilyn MS 

PROVIDER: S-EPMC10038226 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature