Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms. Herein, we reported a case of a 4-month-old ba...

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Bibliographic Details
Main Authors: Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Congenital disorders of glycosylation
MPI gene
Hypoglycemia
Mild diarrhea
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924001150
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