Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

Abstract Background Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells. About 90 cases are reported worldwide, with symptoms including chronic hemolytic anemia,...

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Bibliographic Details
Main Authors: Sissel Holme, Richard van Wijk, Andreas Ørslev Rasmussen, Jesper Petersen, Andreas Glenthøj
Format: Article
Language:English
Published: BMC 2024-03-01
Series:Journal of Medical Case Reports
Subjects:
Glucose-6-phosphate isomerase
Hemolytic anemia
Glycolysis
RBC enzymes
Hereditary anemia
Online Access:https://doi.org/10.1186/s13256-024-04466-7

Internet

https://doi.org/10.1186/s13256-024-04466-7

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