#Maple syrup urine disease statistics software
The bioinformatics software revealed that the mutations were harmful, and the prediction results of Swiss PDB Viewer suggest that variation affects protein conformation.Ĭonclusion: This study identified nine pathogenic variants in the BCKDHA, BCKDHB, and DBT genes in six MSUD families, including two novel pathogenic variants in the BCKDHB gene, which enriched the genetic mutational spectrum of the disease. Sanger sequencing’s results were consistent with the high-throughput sequencing. Result: A total of six MSUD patients were diagnosed, including four males and two females. Using Swiss PDB Viewer software to predict the effect of mutation on the structure of BCKDHA and BCKDHB proteins. Bioinformatics software analyzed the variants’ pathogenicity. Validate candidate mutations by polymerase chain reaction (PCR)-Sanger sequencing technology. Methods: Clinical examination was carried out for patients and used blood tandem mass spectrometry (MS/MS), urine gas chromatography-mass spectrometry (GC/MS), and the application of high-throughput sequencing technology for detection. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing technology in the early diagnosis of MUSD. 2Peking University First Hospital Ningxia Women and Children’s Hospital (Ningxia Hui Autonomous Region Maternal and Child Health Hospital), Yinchuan, Chinaīackground: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease.1Department of Newborn Screening Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Healthcare Hospital, Beijing, China.Lulu Li 1 †, Xinmei Mao 2 †, Nan Yang 1, Taoyun Ji 2, Shunan Wang 1, Yulan Ma 2, Haihe Yang 1, Yuting Sang 2, Jinqi Zhao 1, Lifei Gong 1, Yue Tang 1 and Yuanyuan Kong 1*
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