Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

• Main Authors: Jianli Zhou (Author), Yuzhen Zhao (Author), Xia Qian (Author), Yongwei Cheng (Author), Huabo Cai (Author), Moxian Chen (Author), Shaoming Zhou (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually be...