Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

• Main Authors: Xiulan Lu (Author), Weijian Chen (Author), Liping Li (Author), Xinyuan Zhu (Author), Caizhi Huang (Author), Saijun Liu (Author), Yongjia Yang (Author), Yaowang Zhao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 h...