Volume 14, Issue 2 (May 2026)
Res Mol Med (RMM) 2026, 14(2): 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-en.html
URL: http://rmm.mazums.ac.ir/article-1-618-en.html
1- Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran.
2- Department of Pediatrics, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
3- Sinayemehr Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
4- Amol Faculty of Paramedicine, Mazandaran University of Medical Sciences, Sari, Iran.
5- Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran. ,Mahdavi899@gmail.com
2- Department of Pediatrics, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
3- Sinayemehr Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
4- Amol Faculty of Paramedicine, Mazandaran University of Medical Sciences, Sari, Iran.
5- Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran. ,
Abstract: (197 Views)
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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