Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review

• Main Authors: Siliang Lu (Author), Shuheng Liang (Author), Yi Wu (Author), Jinyi Liu (Author), Lin Lin (Author), Guosheng Huang (Author), Huaijun Ning (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We report the case of a 2-year-old girl who was diagnosed with Mannose-6-phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) and provide a review of the relevant literature. The young girl presented with recurrent unexplained diarrhea, vomiting, hypoproteinemia, and elevated liver tra...