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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

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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Maryam Nasri, Nejat Mahdieh, Farzaneh Abbasi, Reihaneh Mohsenipour, Saeideh Abdolahpour
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2026-01-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
2-Methylbutyryl-CoA dehydrogenase deficiency
Newborn screening
Organic acidemia
ACADSB gene
Novel variant
Genetic testing
Online-Zugang:https://doi.org/10.1186/s13023-025-04163-8
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