Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia
Year: 2024
Type: article
Study design: Case Report
Abstract: Background: gene and characterized by digestive, hepatic, and endocrine-related symptoms. Herein, we reported a case of a 4-month-old baby with MPI-CDG confirmed by genetic testing. Case summary: gene caused the CDG. Conclusion: MPI-CDG should be considered in infancy with unexplained hypoglycemia and recurrent digestive and endocrine system involvement. Also, if evident symptoms are present, a gene examination should be performed, as this could speed up the diagnosis assuring timely treatment.
Authors: Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen
Institutions: Hunan Normal University, Hunan Provincial People's Hospital
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,410
OpenAlex ID: W4404538559