دوره 14، شماره 2 - ( 4-1405 )
جلد 14 شماره 2 صفحات 0-0 |
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Jalali H, Molaei Z, Ghorbani F, Mokhtari H, Mahdavi M R. From Screening to Diagnosis: ACADSB Variant Co-Inheritance Causing 2-Methylbutyrylglycinuria in an Iranian Neonate. Res Mol Med (RMM) 2026; 14 (2)
URL: http://rmm.mazums.ac.ir/article-1-618-fa.html
URL: http://rmm.mazums.ac.ir/article-1-618-fa.html
From Screening to Diagnosis: ACADSB Variant Co-Inheritance Causing 2-Methylbutyrylglycinuria in an Iranian Neonate. Research in Molecular Medicine. 1405; 14 (2)
چکیده: (188 مشاهده)
Short/branched-chain acyl-CoA dehydrogenase deficiency, also known as 2-methylbutyrylglycinuria, is a rare autosomal recessive metabolic disorder affecting the catabolism of L-isoleucine. Early detection through newborn screening programs using tandem mass spectrometry enables timely diagnosis and intervention, potentially preventing severe clinical outcomes. In this study, we report a case identified through Iran's national newborn screening program, presenting with elevated C5-acylcarnitine levels. Whole exome sequencing revealed compound heterozygosity for two ACADSB gene variants: c.908G>C and c.1159G>A. While c.1159G>A is classified as pathogenic, c.908G>C was previously considered a variant of uncertain significance. However, the observed biochemical phenotype and in silico analysis support reclassification of c.908G>C as likely pathogenic. This case highlights the importance of integrating genotype–phenotype correlation and advanced genomic tools to refine variant interpretation and improve diagnostic accuracy in rare metabolic disorders.
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