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

Abstract Background 2-Methylbutyryl-CoA dehydrogenase deficiency (2-MBDD), also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a rare inborn error of metabolism classified as an organic acidemia. Early detection through neonatal screening is crucial to prevent irreversib...

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Váldodahkkit:	Maryam Nasri, Nejat Mahdieh, Farzaneh Abbasi, Reihaneh Mohsenipour, Saeideh Abdolahpour
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	BMC 2026-01-01
Ráidu:	Orphanet Journal of Rare Diseases
Fáttát:	2-Methylbutyryl-CoA dehydrogenase deficiency Newborn screening Organic acidemia ACADSB gene Novel variant Genetic testing
Liŋkkat:	https://doi.org/10.1186/s13023-025-04163-8
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