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Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency

β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency. We reported 7 C...

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Detalles Bibliográficos
Autores principales: Fang, Yulian, Cai, Chunquan, Wang, Chao, Sun, Bei, Zhang, Xinjie, Fan, Wenxuan, Hu, Wenchao, Meng, Yingtao, Lin, Shuxiang, Zhang, Chunhua, Zhang, Yuqin, Shu, Jianbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344145/
https://www.ncbi.nlm.nih.gov/pubmed/30608453
http://dx.doi.org/10.1097/MD.0000000000014021
Descripción
Sumario:β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency. We reported 7 Chinese patients with βUP deficiency who were admitted at Tianjin Children's Hospital. Urine metabolomics was detected by gas chromatography–mass spectrometry (GC–MS). Then genetic testing of UPB1 was conducted by polymerase chain reaction (PCR) method. The patients presented with developmental delay, seizures, autism, abnormal magnetic resonance imaging, and significantly elevated levels of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid in urine. Subsequent analysis of UPB1 mutation revealed 2 novel missense mutations (c.851G>T and c.853G>A), 3 previously reported mutations including 2 missense mutations (c.977G>A and c.91G>A) and 1 splice site mutation (c.917-1 G>A). The results suggested that the UPB1 mutation may contribute to βUP deficiency. The c.977G>A is the most common mutation in Chinese population.