en ژنتیک Genetic گزارش مورد case report <div style="text-align: justify;"><span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span style="unicode-bidi:embed"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;"><span style="font-size:12.0pt"><span style="font-family:&quot;Times New Roman&quot;,&quot;serif&quot;">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&#39;s national newborn screening program, presenting with elevated C5-acylcarnitine levels. Whole exome sequencing revealed compound heterozygosity for two <i>ACADSB</i> 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&ndash;phenotype correlation and advanced genomic tools to refine variant interpretation and improve diagnostic accuracy in rare metabolic disorders.</span></span></span></span></span></span></span></div> ACADSB gene, Newborn screening, 2-methylbutyrylglycinuria 0 0 http://rmm.mazums.ac.ir/browse.php?a_code=A-10-856-8&slc_lang=en&sid=1 Hossein Jalali hossein.jalaliakerdi@gmail.com 100319475328460013761 100319475328460013761 No Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran. Ziba Molaei Zibamolaei88@yahoo.com 100319475328460013762 100319475328460013762 No Department of Pediatrics, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran. Fatemeh Ghorbani fatemehghorbani274@gmail.com 100319475328460013763 100319475328460013763 No Sinayemehr Research Center, Mazandaran University of Medical Sciences, Sari, Iran. Hossein Mokhtari mokhtarimsh@yahoo.com 100319475328460013764 100319475328460013764 No Amol Faculty of Paramedicine, Mazandaran University of Medical Sciences, Sari, Iran. Mohammad Reza Mahdavi Mahdavi899@gmail.com 100319475328460013765 100319475328460013765 Yes Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran.