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Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran

Crossref DOI link: https://doi.org/10.1186/s13023-025-04163-8

Published Online: 2026-01-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Nasri, Maryam

Mahdieh, Nejat

Abbasi, Farzaneh

Mohsenipour, Reihaneh

Abdolahpour, Saeideh https://orcid.org/0000-0002-7368-7208
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Text and Data Mining valid from 2026-01-12

Version of Record valid from 2026-01-12
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Article History

Received: 7 May 2025

Accepted: 22 November 2025

First Online: 12 January 2026

Declarations

:

: This study was approved by the Ethics Committee of Tehran University of Medical Sciences, Tehran, Iran (IR.TUMS.CHMC.REC.1402.129). The research was conducted as part of the national newborn screening program, in which parental consent for screening and for the use of anonymized data for research purposes is implied upon participation. No additional written informed consent was required by the Ethics Committee for this retrospective analysis of de-identified screening data.

: Written informed consent for publication was not required by the Ethics Committee, as the manuscript contains no identifying information (including images, personal details, or genetic data that could reveal the identity of any individual). All data were fully anonymized in accordance with the approved ethical standards.

: The authors declare that they have no financial or personal relationships that could influence the work reported in this paper.

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